CleftGeneDB-Search

Gene: RYK

Basic information

Tag	Content
Uniprot ID	P34925; A0A087WUK1; A0A096LNL3; Q04696;
Entrez ID	6259
Genbank protein ID	CAA65406.1; CAA49591.1; AAB26341.1;
Genbank nucleotide ID	NM_002958.3; NM_001005861.2;
Ensembl protein ID	ENSP00000485095; ENSP00000478721;
Ensembl nucleotide ID	ENSG00000163785
Gene name	Tyrosine-protein kinase RYK
Gene symbol	RYK
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	16681403
Functional description	May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C-terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development.
Sequence	MRGAARLGRP GRSCLPGARG LRAPPPPPLL LLLALLPLLP APGAAAAPAP RPPELQSASA 60 GPSVSLYLSE DEVRRLIGLD AELYYVRNDL ISHYALSFSL LVPSETNFLH FTWHAKSKVE 120 YKLGFQVDNV LAMDMPQVNI SVQGEVPRTL SVFRVELSCT GKVDSEVMIL MQLNLTVNSS 180 KNFTVLNFKR RKMCYKKLEE VKTSALDKNT SRTIYDPVHA APTTSTRVFY ISVGVCCAVI 240 FLVAIILAVL HLHSMKRIEL DDSISASSSS QGLSQPSTQT TQYLRADTPN NATPITSYPT 300 LRIEKNDLRS VTLLEAKGKV KDIAISRERI TLKDVLQEGT FGRIFHGILI DEKDPNKEKQ 360 AFVKTVKDQA SEIQVTMMLT ESCKLRGLHH RNLLPITHVC IEEGEKPMVI LPYMNWGNLK 420 LFLRQCKLVE ANNPQAISQQ DLVHMAIQIA CGMSYLARRE VIHKDLAARN CVIDDTLQVK 480 ITDNALSRDL FPMDYHCLGD NENRPVRWMA LESLVNNEFS SASDVWAFGV TLWELMTLGQ 540 TPYVDIDPFE MAAYLKDGYR IAQPINCPDE LFAVMACCWA LDPEERPKFQ QLVQCLTEFH 600 AALGAYV 607

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6TUA

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	RYK	102170271	A0A452FRV1			Capra hircus	Prediction	More>>
1:1 ortholog	RYK	6259	P34925	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Ryk	20187	Q01887	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	RYK	470931	H2QNE9			Pan troglodytes	Prediction	More>>
1:1 ortholog	Ryk		F1LQR5			Rattus norvegicus	Prediction	More>>
1:1 ortholog	ryk	558502	A2RRV7			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
RYK	c.1355G>A; p.Y452C	Direct sequencing; TDT	16681403

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1278966703	p.Arg2Gly	missense variant	-	NC_000003.12:g.134250651G>C	TOPMed
RCV000202926	p.Ala4Ter	frameshift	-	NC_000003.12:g.134250648dup	ClinVar
rs1294884874	p.Ala5Val	missense variant	-	NC_000003.12:g.134250641G>A	gnomAD
rs1305870665	p.Ala5Ser	missense variant	-	NC_000003.12:g.134250642C>A	gnomAD
rs1294884874	p.Ala5Glu	missense variant	-	NC_000003.12:g.134250641G>T	gnomAD
rs1229506983	p.Arg6Trp	missense variant	-	NC_000003.12:g.134250639G>A	TOPMed,gnomAD
rs1232069643	p.Leu7Arg	missense variant	-	NC_000003.12:g.134250635A>C	TOPMed
rs1289705971	p.Gly8Arg	missense variant	-	NC_000003.12:g.134250633C>G	TOPMed
rs1338534575	p.Arg9Gln	missense variant	-	NC_000003.12:g.134250629C>T	gnomAD
rs1452561934	p.Pro10Ala	missense variant	-	NC_000003.12:g.134250627G>C	TOPMed
rs1450164129	p.Gly11Asp	missense variant	-	NC_000003.12:g.134250623C>T	gnomAD
rs1313860316	p.Arg12Gly	missense variant	-	NC_000003.12:g.134250621G>C	TOPMed,gnomAD
rs1404958438	p.Cys14Ser	missense variant	-	NC_000003.12:g.134250614C>G	gnomAD
rs1331567029	p.Leu15Phe	missense variant	-	NC_000003.12:g.134250612G>A	gnomAD
rs1487126898	p.Pro16Leu	missense variant	-	NC_000003.12:g.134250608G>A	TOPMed
rs1463159977	p.Gly17Arg	missense variant	-	NC_000003.12:g.134250606C>T	gnomAD
rs1169056362	p.Ala18Gly	missense variant	-	NC_000003.12:g.134250602G>C	gnomAD
rs1423800183	p.Ala18Pro	missense variant	-	NC_000003.12:g.134250603C>G	TOPMed
rs1423800183	p.Ala18Ser	missense variant	-	NC_000003.12:g.134250603C>A	TOPMed
rs1390488964	p.Arg19Gly	missense variant	-	NC_000003.12:g.134250600G>C	gnomAD
rs888348728	p.Gly20Asp	missense variant	-	NC_000003.12:g.134250596C>T	TOPMed,gnomAD
rs888348728	p.Gly20Val	missense variant	-	NC_000003.12:g.134250596C>A	TOPMed,gnomAD
rs888348728	p.Gly20Ala	missense variant	-	NC_000003.12:g.134250596C>G	TOPMed,gnomAD
rs1412920962	p.Leu21Pro	missense variant	-	NC_000003.12:g.134250593A>G	TOPMed
rs1182184174	p.Arg22Met	missense variant	-	NC_000003.12:g.134250590C>A	gnomAD
rs1461124995	p.Ala23Val	missense variant	-	NC_000003.12:g.134250587G>A	gnomAD
rs1479746276	p.Pro24Gln	missense variant	-	NC_000003.12:g.134250584G>T	TOPMed,gnomAD
rs1197798404	p.Pro24Thr	missense variant	-	NC_000003.12:g.134250585G>T	gnomAD
rs1479746276	p.Pro24Leu	missense variant	-	NC_000003.12:g.134250584G>A	TOPMed,gnomAD
rs1343195961	p.Pro27Ser	missense variant	-	NC_000003.12:g.134250576G>A	TOPMed
rs1399686940	p.Pro27Leu	missense variant	-	NC_000003.12:g.134250575G>A	TOPMed
rs1317042228	p.Pro28Gln	missense variant	-	NC_000003.12:g.134250572G>T	TOPMed,gnomAD
rs1317042228	p.Pro28Leu	missense variant	-	NC_000003.12:g.134250572G>A	TOPMed,gnomAD
rs1309645126	p.Ala34Val	missense variant	-	NC_000003.12:g.134250554G>A	gnomAD
rs1215452690	p.Leu35Met	missense variant	-	NC_000003.12:g.134250552G>T	TOPMed
rs1488999289	p.Pro37Ser	missense variant	-	NC_000003.12:g.134250546G>A	TOPMed
rs1184730336	p.Leu38Met	missense variant	-	NC_000003.12:g.134250543G>T	TOPMed
rs775525703	p.Pro40Ala	missense variant	-	NC_000003.12:g.134250537G>C	ExAC,gnomAD
rs1393877344	p.Pro42Ser	missense variant	-	NC_000003.12:g.134250531G>A	TOPMed,gnomAD
rs1164911896	p.Pro42Leu	missense variant	-	NC_000003.12:g.134250530G>A	TOPMed
rs1393877344	p.Pro42Thr	missense variant	-	NC_000003.12:g.134250531G>T	TOPMed,gnomAD
rs1297164477	p.Gly43Cys	missense variant	-	NC_000003.12:g.134250528C>A	gnomAD
rs1368050360	p.Ala44Ser	missense variant	-	NC_000003.12:g.134250525C>A	gnomAD
rs1046950800	p.Ala45Thr	missense variant	-	NC_000003.12:g.134250522C>T	TOPMed,gnomAD
rs1444512773	p.Ala45Val	missense variant	-	NC_000003.12:g.134250521G>A	gnomAD
rs1046950800	p.Ala45Ser	missense variant	-	NC_000003.12:g.134250522C>A	TOPMed,gnomAD
rs1184340310	p.Ala46Ser	missense variant	-	NC_000003.12:g.134250519C>A	gnomAD
rs772198299	p.Ala46Val	missense variant	-	NC_000003.12:g.134250518G>A	ExAC
rs1184340310	p.Ala46Thr	missense variant	-	NC_000003.12:g.134250519C>T	gnomAD
rs1210558103	p.Ala47Val	missense variant	-	NC_000003.12:g.134250515G>A	gnomAD
rs1250064212	p.Ala47Ser	missense variant	-	NC_000003.12:g.134250516C>A	gnomAD
rs1210558103	p.Ala47Asp	missense variant	-	NC_000003.12:g.134250515G>T	gnomAD
rs1250064212	p.Ala47Thr	missense variant	-	NC_000003.12:g.134250516C>T	gnomAD
rs536406334	p.Pro48Ala	missense variant	-	NC_000003.12:g.134250513G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs567577474	p.Pro48His	missense variant	-	NC_000003.12:g.134250512G>T	1000Genomes,gnomAD
rs536406334	p.Pro48Ser	missense variant	-	NC_000003.12:g.134250513G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs567577474	p.Pro48Leu	missense variant	-	NC_000003.12:g.134250512G>A	1000Genomes,gnomAD
rs916328916	p.Pro50Ser	missense variant	-	NC_000003.12:g.134250507G>A	TOPMed
rs916328916	p.Pro50Thr	missense variant	-	NC_000003.12:g.134250507G>T	TOPMed
rs201505334	p.Arg51Trp	missense variant	-	NC_000003.12:g.134250504G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1240906983	p.Arg51Gln	missense variant	-	NC_000003.12:g.134250503C>T	gnomAD
rs936148294	p.Pro52Ser	missense variant	-	NC_000003.12:g.134250501G>A	TOPMed,gnomAD
rs936148294	p.Pro52Thr	missense variant	-	NC_000003.12:g.134250501G>T	TOPMed,gnomAD
rs564758389	p.Pro53Ala	missense variant	-	NC_000003.12:g.134250498G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1300679361	p.Pro53Leu	missense variant	-	NC_000003.12:g.134250497G>A	TOPMed,gnomAD
rs1300679361	p.Pro53Gln	missense variant	-	NC_000003.12:g.134250497G>T	TOPMed,gnomAD
rs564758389	p.Pro53Ser	missense variant	-	NC_000003.12:g.134250498G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1178976390	p.Glu54Asp	missense variant	-	NC_000003.12:g.134250493C>A	TOPMed
rs1361727233	p.Gln56Lys	missense variant	-	NC_000003.12:g.134250489G>T	gnomAD
rs1452045857	p.Ala58Val	missense variant	-	NC_000003.12:g.134250482G>A	TOPMed,gnomAD
rs769533417	p.Ser59Phe	missense variant	-	NC_000003.12:g.134250479G>A	ExAC,gnomAD
rs1321756558	p.Ser59Pro	missense variant	-	NC_000003.12:g.134250480A>G	gnomAD
rs747854482	p.Gly61Val	missense variant	-	NC_000003.12:g.134250473C>A	ExAC,gnomAD
rs1199887047	p.Gly61Trp	missense variant	-	NC_000003.12:g.134250474C>A	gnomAD
rs747854482	p.Gly61Glu	missense variant	-	NC_000003.12:g.134250473C>T	ExAC,gnomAD
rs780639254	p.Val64Met	missense variant	-	NC_000003.12:g.134250465C>T	ExAC,gnomAD
rs1206715445	p.Ser65Gly	missense variant	-	NC_000003.12:g.134250462T>C	gnomAD
rs1348316728	p.Ser65Ile	missense variant	-	NC_000003.12:g.134250461C>A	gnomAD
rs1416189775	p.Asp71Glu	missense variant	-	NC_000003.12:g.134250442G>C	TOPMed
rs1223765587	p.Glu72Lys	missense variant	-	NC_000003.12:g.134250441C>T	gnomAD
rs1280884179	p.Leu76Val	missense variant	-	NC_000003.12:g.134250429G>C	gnomAD
rs1341732813	p.Gly78Arg	missense variant	-	NC_000003.12:g.134250423C>G	gnomAD
rs767622724	p.Asp80Asn	missense variant	-	NC_000003.12:g.134222534C>T	ExAC,gnomAD
rs1336357951	p.Glu82Lys	missense variant	-	NC_000003.12:g.134222528C>T	gnomAD
rs759712382	p.Leu83Pro	missense variant	-	NC_000003.12:g.134222524A>G	ExAC,gnomAD
rs770960652	p.Tyr84His	missense variant	-	NC_000003.12:g.134222522A>G	ExAC,gnomAD
rs1474423396	p.Tyr85Phe	missense variant	-	NC_000003.12:g.134222518T>A	gnomAD
rs762904245	p.Val86Leu	missense variant	-	NC_000003.12:g.134222516C>A	ExAC,gnomAD
rs1481820792	p.Asn88Lys	missense variant	-	NC_000003.12:g.134222508A>T	TOPMed
rs773079994	p.Asn88Ser	missense variant	-	NC_000003.12:g.134222509T>C	ExAC,gnomAD
rs769577524	p.Asp89Glu	missense variant	-	NC_000003.12:g.134222505G>T	ExAC,gnomAD
rs1240991415	p.Leu90Phe	missense variant	-	NC_000003.12:g.134222504G>A	gnomAD
rs1431937807	p.Ile91Val	missense variant	-	NC_000003.12:g.134222501T>C	gnomAD
rs747886580	p.Ser92Gly	missense variant	-	NC_000003.12:g.134222498T>C	ExAC,gnomAD
rs780952902	p.Ser92Ile	missense variant	-	NC_000003.12:g.134222497C>A	ExAC,gnomAD
rs1339367013	p.Leu96Val	missense variant	-	NC_000003.12:g.134222486G>C	gnomAD
rs374574792	p.Ser97Cys	missense variant	-	NC_000003.12:g.134222482G>C	ESP,ExAC,gnomAD
rs1131262	p.Ser99Asn	missense variant	-	NC_000003.12:g.134222476C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1131262	p.Ser99Asn	missense variant	-	NC_000003.12:g.134222476C>T	UniProt,dbSNP
VAR_041800	p.Ser99Asn	missense variant	-	NC_000003.12:g.134222476C>T	UniProt
rs1131262	p.Ser99Ile	missense variant	-	NC_000003.12:g.134222476C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778421089	p.Leu100Val	missense variant	-	NC_000003.12:g.134222474G>C	ExAC,gnomAD
rs560711450	p.Pro103Ser	missense variant	-	NC_000003.12:g.134222465G>A	ExAC,TOPMed,gnomAD
rs755189493	p.Leu109Val	missense variant	-	NC_000003.12:g.134222447G>C	ExAC,gnomAD
rs766463990	p.Thr112Ile	missense variant	-	NC_000003.12:g.134222437G>A	ExAC,gnomAD
rs751733843	p.Thr112Ala	missense variant	-	NC_000003.12:g.134222438T>C	ExAC,TOPMed,gnomAD
rs1396314718	p.Trp113Arg	missense variant	-	NC_000003.12:g.134222435A>G	TOPMed
rs1426715457	p.Ala115Val	missense variant	-	NC_000003.12:g.134222428G>A	TOPMed
rs1373486374	p.Lys118Glu	missense variant	-	NC_000003.12:g.134222420T>C	TOPMed
rs1376741818	p.Glu120Val	missense variant	-	NC_000003.12:g.134211603T>A	TOPMed
rs1329760899	p.Glu120Lys	missense variant	-	NC_000003.12:g.134211604C>T	TOPMed
rs755315490	p.Lys122Glu	missense variant	-	NC_000003.12:g.134211598T>C	ExAC,gnomAD
rs1409842951	p.Lys122Asn	missense variant	-	NC_000003.12:g.134211596C>G	gnomAD
rs751788725	p.Gly124Val	missense variant	-	NC_000003.12:g.134211591C>A	ExAC,TOPMed,gnomAD
rs751788725	p.Gly124Ala	missense variant	-	NC_000003.12:g.134211591C>G	ExAC,TOPMed,gnomAD
rs751788725	p.Gly124Glu	missense variant	-	NC_000003.12:g.134211591C>T	ExAC,TOPMed,gnomAD
rs1281843637	p.Phe125Leu	missense variant	-	NC_000003.12:g.134211587G>C	TOPMed
rs371293491	p.Gln126Glu	missense variant	-	NC_000003.12:g.134211586G>C	ESP,TOPMed
rs1263951826	p.Val127Ala	missense variant	-	NC_000003.12:g.134211582A>G	TOPMed
rs577109506	p.Val127Met	missense variant	-	NC_000003.12:g.134211583C>T	1000Genomes,ExAC,gnomAD
rs758526926	p.Val130Ala	missense variant	-	NC_000003.12:g.134211573A>G	ExAC,TOPMed,gnomAD
rs367816834	p.Ala132Ser	missense variant	-	NC_000003.12:g.134211568C>A	ESP,TOPMed
rs750477962	p.Met133Val	missense variant	-	NC_000003.12:g.134211565T>C	ExAC,TOPMed,gnomAD
rs1217002650	p.Met135Ile	missense variant	-	NC_000003.12:g.134211557C>T	gnomAD
rs765257118	p.Met135Val	missense variant	-	NC_000003.12:g.134211559T>C	ExAC,TOPMed,gnomAD
rs941264136	p.Pro136Ser	missense variant	-	NC_000003.12:g.134211556G>A	TOPMed
rs1319134701	p.Gln137Leu	missense variant	-	NC_000003.12:g.134211552T>A	gnomAD
rs761686729	p.Ile140Met	missense variant	-	NC_000003.12:g.134211542A>C	ExAC,TOPMed,gnomAD
rs776580145	p.Val142Ile	missense variant	-	NC_000003.12:g.134211538C>T	ExAC,gnomAD
rs763809419	p.Gln143Arg	missense variant	-	NC_000003.12:g.134211534T>C	ExAC,TOPMed,gnomAD
rs763809419	p.Gln143Leu	missense variant	-	NC_000003.12:g.134211534T>A	ExAC,TOPMed,gnomAD
rs1168899159	p.Glu145Lys	missense variant	-	NC_000003.12:g.134211529C>T	TOPMed
rs374496055	p.Arg148Cys	missense variant	-	NC_000003.12:g.134211520G>A	ESP,TOPMed
rs372371526	p.Arg148His	missense variant	-	NC_000003.12:g.134211519C>T	ESP,TOPMed,gnomAD
rs1343609127	p.Leu150Ser	missense variant	-	NC_000003.12:g.134211513A>G	gnomAD
rs1322947036	p.Arg154Trp	missense variant	-	NC_000003.12:g.134209824G>A	gnomAD
rs529845968	p.Arg154Gln	missense variant	-	NC_000003.12:g.134209823C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750600911	p.Val155Leu	missense variant	-	NC_000003.12:g.134209821C>A	ExAC,gnomAD
rs1251334583	p.Lys162Gln	missense variant	-	NC_000003.12:g.134209800T>G	TOPMed
rs149986169	p.Val167Ile	missense variant	-	NC_000003.12:g.134209785C>T	1000Genomes,ExAC,gnomAD
rs1338325945	p.Met168Thr	missense variant	-	NC_000003.12:g.134209781A>G	TOPMed,gnomAD
rs753723548	p.Met168Val	missense variant	-	NC_000003.12:g.134209782T>C	ExAC,gnomAD
rs1338325945	p.Met168Lys	missense variant	-	NC_000003.12:g.134209781A>T	TOPMed,gnomAD
rs764088042	p.Met171Thr	missense variant	-	NC_000003.12:g.134209772A>G	ExAC,gnomAD
rs959319395	p.Met171Val	missense variant	-	NC_000003.12:g.134209773T>C	TOPMed
rs752511351	p.Thr176Ser	missense variant	-	NC_000003.12:g.134209758T>A	ExAC,gnomAD
rs564509399	p.Val177Glu	missense variant	-	NC_000003.12:g.134209754A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1480417718	p.Ser179Thr	missense variant	-	NC_000003.12:g.134209749A>T	gnomAD
rs1379240286	p.Ser180Ter	stop gained	-	NC_000003.12:g.134209745G>T	TOPMed
rs544716970	p.Val185Ile	missense variant	-	NC_000003.12:g.134209731C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1460990813	p.Arg190Ter	stop gained	-	NC_000003.12:g.134209716G>A	gnomAD
rs576123283	p.Arg190Gln	missense variant	-	NC_000003.12:g.134209715C>T	1000Genomes,ExAC,gnomAD
rs140598974	p.Met193Val	missense variant	-	NC_000003.12:g.134209707T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs944416131	p.Met193Ile	missense variant	-	NC_000003.12:g.134209705C>T	TOPMed,gnomAD
rs1227519319	p.Tyr195Phe	missense variant	-	NC_000003.12:g.134209700T>A	TOPMed,gnomAD
rs1227519319	p.Tyr195Cys	missense variant	-	NC_000003.12:g.134209700T>C	TOPMed,gnomAD
rs1251492030	p.Glu200Gly	missense variant	-	NC_000003.12:g.134207516T>C	gnomAD
rs1179069104	p.Thr203Ser	missense variant	-	NC_000003.12:g.134207508T>A	gnomAD
rs546676972	p.Leu206Ser	missense variant	-	NC_000003.12:g.134207498A>G	1000Genomes
rs1273942929	p.Thr210Ser	missense variant	-	NC_000003.12:g.134207486G>C	gnomAD
rs1261036635	p.Val218Ala	missense variant	-	NC_000003.12:g.134202865A>G	gnomAD
rs767435817	p.His219Leu	missense variant	-	NC_000003.12:g.134202862T>A	ExAC,gnomAD
rs1240752465	p.His219Tyr	missense variant	-	NC_000003.12:g.134202863G>A	gnomAD
rs759341783	p.Ala221Val	missense variant	-	NC_000003.12:g.134202856G>A	ExAC,gnomAD
rs1287232009	p.Ala221Pro	missense variant	-	NC_000003.12:g.134202857C>G	TOPMed,gnomAD
rs1469564053	p.Pro222Ala	missense variant	-	NC_000003.12:g.134202854G>C	gnomAD
rs1347981637	p.Ser225Cys	missense variant	-	NC_000003.12:g.134202844G>C	gnomAD
rs1452106632	p.Thr226Ala	missense variant	-	NC_000003.12:g.134202842T>C	TOPMed
rs1386653374	p.Thr226Met	missense variant	-	NC_000003.12:g.134202841G>A	gnomAD
rs55740278	p.Arg227Gly	missense variant	-	NC_000003.12:g.134202839G>C	ExAC,TOPMed,gnomAD
rs374337304	p.Arg227His	missense variant	-	NC_000003.12:g.134202838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs55740278	p.Arg227Cys	missense variant	-	NC_000003.12:g.134202839G>A	ExAC,TOPMed,gnomAD
rs55740278	p.Arg227Cys	missense variant	-	NC_000003.12:g.134202839G>A	UniProt,dbSNP
VAR_041801	p.Arg227Cys	missense variant	-	NC_000003.12:g.134202839G>A	UniProt
rs769251135	p.Ile231Val	missense variant	-	NC_000003.12:g.134202827T>C	ExAC,gnomAD
rs896307212	p.Ser232Thr	missense variant	-	NC_000003.12:g.134202823C>G	TOPMed
rs1054992735	p.Val233Ile	missense variant	-	NC_000003.12:g.134202821C>T	TOPMed
rs775915422	p.Ala238Thr	missense variant	-	NC_000003.12:g.134202806C>T	ExAC,TOPMed,gnomAD
rs746238409	p.Val243Ile	missense variant	-	NC_000003.12:g.134202791C>T	UniProt,dbSNP
VAR_041802	p.Val243Ile	missense variant	-	NC_000003.12:g.134202791C>T	UniProt
rs746238409	p.Val243Ile	missense variant	-	NC_000003.12:g.134202791C>T	ExAC,TOPMed,gnomAD
rs1262249876	p.Ala244Val	missense variant	-	NC_000003.12:g.134202787G>A	gnomAD
rs572311608	p.Ala244Thr	missense variant	-	NC_000003.12:g.134202788C>T	1000Genomes,ExAC,gnomAD
rs771153726	p.Ile245Met	missense variant	-	NC_000003.12:g.134202783T>C	ExAC,TOPMed,gnomAD
rs1463309681	p.Val249Ala	missense variant	-	NC_000003.12:g.134202772A>G	gnomAD
rs1267068034	p.Leu250Phe	missense variant	-	NC_000003.12:g.134202768C>A	TOPMed,gnomAD
rs1325096617	p.His253Leu	missense variant	-	NC_000003.12:g.134202760T>A	TOPMed,gnomAD
rs1325096617	p.His253Arg	missense variant	-	NC_000003.12:g.134202760T>C	TOPMed,gnomAD
rs1470775833	p.His253Asn	missense variant	-	NC_000003.12:g.134202761G>T	TOPMed
rs191818784	p.Ser254Asn	missense variant	-	NC_000003.12:g.134202757C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756207481	p.Met255Val	missense variant	-	NC_000003.12:g.134202755T>C	ExAC,gnomAD
rs1380863659	p.Arg257Lys	missense variant	-	NC_000003.12:g.134202748C>T	gnomAD
rs748104065	p.Asp262Glu	missense variant	-	NC_000003.12:g.134202732G>C	ExAC,gnomAD
rs1471046127	p.Ser263Gly	missense variant	-	NC_000003.12:g.134202731T>C	gnomAD
rs746877198	p.Ile264Val	missense variant	-	NC_000003.12:g.134195181T>C	ExAC,gnomAD
rs201031716	p.Ser268Thr	missense variant	-	NC_000003.12:g.134195168C>G	ESP,ExAC,gnomAD
rs1453748443	p.Ser268Gly	missense variant	-	NC_000003.12:g.134195169T>C	TOPMed
rs201031716	p.Ser268Asn	missense variant	-	NC_000003.12:g.134195168C>T	ESP,ExAC,gnomAD
rs1342072295	p.Ser270Thr	missense variant	-	NC_000003.12:g.134195163A>T	gnomAD
rs756817652	p.Gly272Val	missense variant	-	NC_000003.12:g.134195156C>A	ExAC,TOPMed,gnomAD
rs1475757264	p.Pro276Ser	missense variant	-	NC_000003.12:g.134195145G>A	TOPMed
rs139935782	p.Thr280Met	missense variant	-	NC_000003.12:g.134195132G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760112370	p.Thr280Ala	missense variant	-	NC_000003.12:g.134195133T>C	ExAC,gnomAD
rs139935782	p.Thr280Lys	missense variant	-	NC_000003.12:g.134195132G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1444201618	p.Gln282Arg	missense variant	-	NC_000003.12:g.134195126T>C	TOPMed
rs540032918	p.Tyr283Cys	missense variant	-	NC_000003.12:g.134195123T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs773630873	p.Ala286Val	missense variant	-	NC_000003.12:g.134195114G>A	ExAC,gnomAD
rs748273875	p.Thr288Met	missense variant	-	NC_000003.12:g.134195108G>A	ExAC,TOPMed,gnomAD
rs748273875	p.Thr288Arg	missense variant	-	NC_000003.12:g.134195108G>C	ExAC,TOPMed,gnomAD
rs180735733	p.Thr293Ala	missense variant	-	NC_000003.12:g.134195094T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1344560774	p.Thr293Ile	missense variant	-	NC_000003.12:g.134195093G>A	TOPMed
rs768567317	p.Ile295Val	missense variant	-	NC_000003.12:g.134195088T>C	ExAC,TOPMed,gnomAD
rs766785792	p.Tyr298Cys	missense variant	-	NC_000003.12:g.134191971T>C	ExAC,gnomAD
rs375652759	p.Thr300Ala	missense variant	-	NC_000003.12:g.134191966T>C	ESP,ExAC,TOPMed,gnomAD
rs765653693	p.Arg302Gln	missense variant	-	NC_000003.12:g.134191959C>T	ExAC,gnomAD
rs1001726536	p.Arg302Trp	missense variant	-	NC_000003.12:g.134191960G>A	TOPMed,gnomAD
rs573507958	p.Ile303Met	missense variant	-	NC_000003.12:g.134191955T>C	1000Genomes
rs1036775428	p.Ser310Asn	missense variant	-	NC_000003.12:g.134191935C>T	TOPMed,gnomAD
rs1220945509	p.Ser310Arg	missense variant	-	NC_000003.12:g.134191934A>C	gnomAD
rs775554119	p.Leu313Phe	missense variant	-	NC_000003.12:g.134191927G>A	ExAC,TOPMed,gnomAD
rs775554119	p.Leu313Val	missense variant	-	NC_000003.12:g.134191927G>C	ExAC,TOPMed,gnomAD
rs372101827	p.Leu314Ser	missense variant	-	NC_000003.12:g.134191923A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1444554525	p.Glu315Asp	missense variant	-	NC_000003.12:g.134191919C>A	TOPMed
rs1177593565	p.Gly318Asp	missense variant	-	NC_000003.12:g.134191911C>T	gnomAD
rs748945264	p.Val320Leu	missense variant	-	NC_000003.12:g.134191906C>A	ExAC
rs937537260	p.Asp322Asn	missense variant	-	NC_000003.12:g.134191900C>T	TOPMed
rs1425051712	p.Ile325Val	missense variant	-	NC_000003.12:g.134191891T>C	gnomAD
rs755710425	p.Ser326Pro	missense variant	-	NC_000003.12:g.134191888A>G	ExAC,gnomAD
rs1246520350	p.Glu328Lys	missense variant	-	NC_000003.12:g.134191882C>T	gnomAD
rs375133082	p.Arg329Ser	missense variant	-	NC_000003.12:g.134191877C>G	ESP
rs780654400	p.Arg329Lys	missense variant	-	NC_000003.12:g.134191878C>T	ExAC,TOPMed,gnomAD
rs759001453	p.Leu332Val	missense variant	-	NC_000003.12:g.134191870G>C	ExAC,gnomAD
rs765713202	p.Lys333Asn	missense variant	-	NC_000003.12:g.134191865T>A	ExAC,gnomAD
rs1277869799	p.Asp334Gly	missense variant	-	NC_000003.12:g.134191863T>C	gnomAD
rs1367113937	p.Val335Ile	missense variant	-	NC_000003.12:g.134191861C>T	gnomAD
rs370703140	p.Leu336Val	missense variant	-	NC_000003.12:g.134191858G>C	ESP,ExAC,TOPMed,gnomAD
rs1335027550	p.Thr340Ala	missense variant	-	NC_000003.12:g.134188921T>C	TOPMed
rs752906721	p.Arg343Cys	missense variant	-	NC_000003.12:g.134188912G>A	ExAC,TOPMed,gnomAD
rs530455784	p.Arg343His	missense variant	-	NC_000003.12:g.134188911C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752906721	p.Arg343Gly	missense variant	-	NC_000003.12:g.134188912G>C	ExAC,TOPMed,gnomAD
rs774328896	p.His346Arg	missense variant	-	NC_000003.12:g.134188902T>C	ExAC,TOPMed,gnomAD
rs1162968404	p.His346Gln	missense variant	-	NC_000003.12:g.134188901A>T	gnomAD
rs1423398171	p.Ile350Val	missense variant	-	NC_000003.12:g.134188891T>C	gnomAD
rs766279665	p.Asp351His	missense variant	-	NC_000003.12:g.134188888C>G	ExAC,gnomAD
rs1184426223	p.Lys353Glu	missense variant	-	NC_000003.12:g.134188882T>C	gnomAD
rs1484021721	p.Pro355Ser	missense variant	-	NC_000003.12:g.134188876G>A	gnomAD
rs1249485506	p.Asn356Asp	missense variant	-	NC_000003.12:g.134188873T>C	gnomAD
rs187357709	p.Asn356Lys	missense variant	-	NC_000003.12:g.134188871A>T	1000Genomes,ExAC,gnomAD
rs772908060	p.Glu358Lys	missense variant	-	NC_000003.12:g.134188867C>T	ExAC,gnomAD
rs769587020	p.Lys359Gln	missense variant	-	NC_000003.12:g.134188864T>G	ExAC,TOPMed,gnomAD
rs1325329825	p.Gln360Lys	missense variant	-	NC_000003.12:g.134188861G>T	TOPMed
rs747772141	p.Ala361Thr	missense variant	-	NC_000003.12:g.134188858C>T	ExAC,gnomAD
rs1047007402	p.Val363Ala	missense variant	-	NC_000003.12:g.134188851A>G	TOPMed
rs1320739106	p.Lys364Arg	missense variant	-	NC_000003.12:g.134188848T>C	gnomAD
rs374029224	p.Thr365Ile	missense variant	-	NC_000003.12:g.134188845G>A	ESP,ExAC,TOPMed,gnomAD
rs948264909	p.Thr365Ala	missense variant	-	NC_000003.12:g.134188846T>C	TOPMed
rs1053684419	p.Val366Ala	missense variant	-	NC_000003.12:g.134188842A>G	TOPMed,gnomAD
rs773148971	p.Asp368Gly	missense variant	-	NC_000003.12:g.134183071T>C	ExAC,gnomAD
rs1177238730	p.Ala370Thr	missense variant	-	NC_000003.12:g.134183066C>T	gnomAD
rs1478347859	p.Ala370Val	missense variant	-	NC_000003.12:g.134183065G>A	gnomAD
rs761667849	p.Ser371Cys	missense variant	-	NC_000003.12:g.134183062G>C	ExAC,gnomAD
rs1196614791	p.Gln374His	missense variant	-	NC_000003.12:g.134183052C>A	gnomAD
rs1328169453	p.Val375Met	missense variant	-	NC_000003.12:g.134183051C>T	TOPMed
rs199538071	p.Met377Val	missense variant	-	NC_000003.12:g.134183045T>C	ESP,ExAC,TOPMed,gnomAD
rs1432408428	p.Leu379Phe	missense variant	-	NC_000003.12:g.134183039G>A	gnomAD
rs1190119743	p.Thr380Ala	missense variant	-	NC_000003.12:g.134183036T>C	gnomAD
rs1357622331	p.Lys384Gln	missense variant	-	NC_000003.12:g.134183024T>G	gnomAD
rs760303222	p.Leu385Met	missense variant	-	NC_000003.12:g.134183021G>T	ExAC,gnomAD
rs775172207	p.Arg386Gly	missense variant	-	NC_000003.12:g.134183018G>C	ExAC,TOPMed,gnomAD
rs775172207	p.Arg386Ter	stop gained	-	NC_000003.12:g.134183018G>A	ExAC,TOPMed,gnomAD
rs771659243	p.Arg386Gln	missense variant	-	NC_000003.12:g.134183017C>T	ExAC,gnomAD
rs1003359275	p.Gly387Ser	missense variant	-	NC_000003.12:g.134183015C>T	TOPMed,gnomAD
rs765210207	p.Leu393Val	missense variant	-	NC_000003.12:g.134178069G>C	ExAC,gnomAD
rs898114072	p.Ile396Val	missense variant	-	NC_000003.12:g.134178060T>C	TOPMed,gnomAD
rs1171994347	p.His398Gln	missense variant	-	NC_000003.12:g.134178052A>C	gnomAD
rs1039388315	p.His398Asn	missense variant	-	NC_000003.12:g.134178054G>T	TOPMed
rs761564187	p.His398Arg	missense variant	-	NC_000003.12:g.134178053T>C	ExAC,gnomAD
rs1039388315	p.His398Tyr	missense variant	-	NC_000003.12:g.134178054G>A	TOPMed
rs753656495	p.Cys400Tyr	missense variant	-	NC_000003.12:g.134178047C>T	ExAC,gnomAD
rs763941686	p.Ile401Leu	missense variant	-	NC_000003.12:g.134178045T>A	ExAC
rs186853257	p.Glu402Gly	missense variant	-	NC_000003.12:g.134178041T>C	1000Genomes
rs1201462376	p.Gly404Arg	missense variant	-	NC_000003.12:g.134178036C>T	TOPMed
rs775215315	p.Glu405Gly	missense variant	-	NC_000003.12:g.134178032T>C	ExAC,gnomAD
rs771547748	p.Pro407Ser	missense variant	-	NC_000003.12:g.134178027G>A	ExAC,gnomAD
rs1338782493	p.Met408Val	missense variant	-	NC_000003.12:g.134178024T>C	TOPMed,gnomAD
rs759072069	p.Ile410Met	missense variant	-	NC_000003.12:g.134178016T>C	ExAC,TOPMed,gnomAD
rs540639521	p.Pro412Ser	missense variant	-	NC_000003.12:g.134178012G>A	ExAC,gnomAD
rs781555616	p.Asn418Ser	missense variant	-	NC_000003.12:g.134177993T>C	ExAC,TOPMed,gnomAD
rs1414281405	p.Leu419Pro	missense variant	-	NC_000003.12:g.134177990A>G	TOPMed
rs747240194	p.Arg424Pro	missense variant	-	NC_000003.12:g.134177975C>G	ExAC,TOPMed,gnomAD
rs768946920	p.Arg424Ter	stop gained	-	NC_000003.12:g.134177976G>A	ExAC,TOPMed,gnomAD
rs747240194	p.Arg424Gln	missense variant	-	NC_000003.12:g.134177975C>T	ExAC,TOPMed,gnomAD
rs1186206557	p.Leu428Val	missense variant	-	NC_000003.12:g.134177964A>C	gnomAD
rs1483696155	p.Val429Ala	missense variant	-	NC_000003.12:g.134177960A>G	TOPMed,gnomAD
rs1358329784	p.Val429Leu	missense variant	-	NC_000003.12:g.134177961C>A	TOPMed
rs369256717	p.Asn432Ser	missense variant	-	NC_000003.12:g.134177951T>C	ESP,ExAC,TOPMed,gnomAD
rs1482941671	p.Asn433Thr	missense variant	-	NC_000003.12:g.134177948T>G	gnomAD
rs758468665	p.Asn433His	missense variant	-	NC_000003.12:g.134177949T>G	ExAC,gnomAD
rs1180655509	p.Ala436Val	missense variant	-	NC_000003.12:g.134176038G>A	gnomAD
rs767174728	p.Gln439Glu	missense variant	-	NC_000003.12:g.134176030G>C	ExAC,gnomAD
rs1224212115	p.Gln440Arg	missense variant	-	NC_000003.12:g.134176026T>C	gnomAD
rs773940787	p.Asp441Glu	missense variant	-	NC_000003.12:g.134176022G>C	ExAC,gnomAD
rs1289475731	p.Met445Leu	missense variant	-	NC_000003.12:g.134176012T>G	TOPMed,gnomAD
rs1289475731	p.Met445Val	missense variant	-	NC_000003.12:g.134176012T>C	TOPMed,gnomAD
rs1209538861	p.Ala446Asp	missense variant	-	NC_000003.12:g.134176008G>T	gnomAD
rs1331332594	p.Ile447Phe	missense variant	-	NC_000003.12:g.134176006T>A	TOPMed,gnomAD
rs141092884	p.Gln448Arg	missense variant	-	NC_000003.12:g.134176002T>C	1000Genomes,ExAC,gnomAD
rs762318020	p.Gln448His	missense variant	-	NC_000003.12:g.134176001C>G	ExAC,gnomAD
rs1372507434	p.Ala450Thr	missense variant	-	NC_000003.12:g.134175997C>T	gnomAD
rs777059872	p.Cys451Phe	missense variant	-	NC_000003.12:g.134175993C>A	ExAC,TOPMed,gnomAD
rs1437452606	p.Gly452Ala	missense variant	-	NC_000003.12:g.134175990C>G	gnomAD
rs375788400	p.Tyr455Cys	missense variant	-	NC_000003.12:g.134175981T>C	ESP,ExAC,TOPMed,gnomAD
rs1455265105	p.Ala457Ser	missense variant	-	NC_000003.12:g.134175976C>A	TOPMed
rs1347862369	p.Arg459Lys	missense variant	-	NC_000003.12:g.134175969C>T	gnomAD
rs116254638	p.Lys464Arg	missense variant	-	NC_000003.12:g.134175954T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390287444	p.Asn470Ser	missense variant	-	NC_000003.12:g.134175936T>C	gnomAD
rs772308530	p.Asn470His	missense variant	-	NC_000003.12:g.134175937T>G	ExAC,gnomAD
rs1156298024	p.Val472Ile	missense variant	-	NC_000003.12:g.134175931C>T	gnomAD
rs1303139133	p.Asp474Asn	missense variant	-	NC_000003.12:g.134175764C>T	TOPMed
rs963511315	p.Leu477Ile	missense variant	-	NC_000003.12:g.134175755G>T	TOPMed,gnomAD
rs963511315	p.Leu477Val	missense variant	-	NC_000003.12:g.134175755G>C	TOPMed,gnomAD
rs1470806602	p.Gln478Glu	missense variant	-	NC_000003.12:g.134175752G>C	gnomAD
rs761070756	p.Asp483Glu	missense variant	-	NC_000003.12:g.134175735G>C	ExAC,gnomAD
rs775956464	p.Ala485Ser	missense variant	-	NC_000003.12:g.134175731C>A	ExAC,gnomAD
rs1406775444	p.Leu486Phe	missense variant	-	NC_000003.12:g.134175728G>A	gnomAD
rs778624399	p.Arg488Gly	missense variant	-	NC_000003.12:g.134175722T>C	TOPMed
rs772277472	p.Met493Leu	missense variant	-	NC_000003.12:g.134175707T>A	ExAC,gnomAD
rs772277472	p.Met493Val	missense variant	-	NC_000003.12:g.134175707T>C	ExAC,gnomAD
rs1253244411	p.Gly499Arg	missense variant	-	NC_000003.12:g.134175689C>T	TOPMed
rs754649427	p.Asn501Ser	missense variant	-	NC_000003.12:g.134175682T>C	TOPMed,gnomAD
rs1246393410	p.Glu502Ter	stop gained	-	NC_000003.12:g.134175680C>A	gnomAD
rs771192909	p.Arg507Leu	missense variant	-	NC_000003.12:g.134175664C>A	ExAC,TOPMed,gnomAD
rs771192909	p.Arg507His	missense variant	-	NC_000003.12:g.134175664C>T	ExAC,TOPMed,gnomAD
rs144378986	p.Arg507Cys	missense variant	-	NC_000003.12:g.134175665G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749356153	p.Ala510Thr	missense variant	-	NC_000003.12:g.134175656C>T	ExAC,TOPMed,gnomAD
rs749356153	p.Ala510Pro	missense variant	-	NC_000003.12:g.134175656C>G	ExAC,TOPMed,gnomAD
rs749356153	p.Ala510Ser	missense variant	-	NC_000003.12:g.134175656C>A	ExAC,TOPMed,gnomAD
rs900124267	p.Ala510Val	missense variant	-	NC_000003.12:g.134175655G>A	TOPMed,gnomAD
rs900124267	p.Ala510Asp	missense variant	-	NC_000003.12:g.134175655G>T	TOPMed,gnomAD
rs187302288	p.Leu511Val	missense variant	-	NC_000003.12:g.134175653G>C	1000Genomes,ExAC,gnomAD
rs1170545684	p.Leu514Val	missense variant	-	NC_000003.12:g.134175644G>C	TOPMed
rs115107686	p.Val515Ile	missense variant	-	NC_000003.12:g.134175641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754659003	p.Glu518Lys	missense variant	-	NC_000003.12:g.134175632C>T	ExAC,TOPMed,gnomAD
rs201359781	p.Phe519Leu	missense variant	-	NC_000003.12:g.134175627G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201359781	p.Phe519Leu	missense variant	-	NC_000003.12:g.134175627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1287590752	p.Ser520Phe	missense variant	-	NC_000003.12:g.134175625G>A	TOPMed
rs757955889	p.Ser521Arg	missense variant	-	NC_000003.12:g.134175621G>T	ExAC,gnomAD
rs1263073285	p.Ala522Gly	missense variant	-	NC_000003.12:g.134175619G>C	TOPMed,gnomAD
rs564736531	p.Ala522Thr	missense variant	-	NC_000003.12:g.134175620C>T	1000Genomes,ExAC,gnomAD
rs1309064343	p.Ser523Gly	missense variant	-	NC_000003.12:g.134175617T>C	TOPMed,gnomAD
rs761195238	p.Ser523Thr	missense variant	-	NC_000003.12:g.134175616C>G	ExAC,gnomAD
rs753088284	p.Val525Leu	missense variant	-	NC_000003.12:g.134175611C>G	ExAC,gnomAD
rs767888706	p.Trp526Arg	missense variant	-	NC_000003.12:g.134159373A>G	ExAC,gnomAD
rs1474932571	p.Gly529Arg	missense variant	-	NC_000003.12:g.134159364C>T	gnomAD
rs759985674	p.Val530Met	missense variant	-	NC_000003.12:g.134159361C>T	ExAC,gnomAD
rs375916618	p.Thr531Met	missense variant	-	NC_000003.12:g.134159357G>A	ESP,ExAC,TOPMed,gnomAD
rs751898749	p.Thr531Ala	missense variant	-	NC_000003.12:g.134159358T>C	ExAC,gnomAD
rs1488627640	p.Met536Leu	missense variant	-	NC_000003.12:g.134159343T>G	gnomAD
rs770062508	p.Leu538Val	missense variant	-	NC_000003.12:g.134159337G>C	ExAC,gnomAD
rs761782790	p.Gly539Asp	missense variant	-	NC_000003.12:g.134159333C>T	ExAC,gnomAD
rs1231117194	p.Gln540Arg	missense variant	-	NC_000003.12:g.134159330T>C	TOPMed
rs368912529	p.Val544Met	missense variant	-	NC_000003.12:g.134159319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1230833404	p.Val544Gly	missense variant	-	NC_000003.12:g.134159318A>C	gnomAD
rs1349150990	p.Ile546Thr	missense variant	-	NC_000003.12:g.134159312A>G	gnomAD
rs1236704629	p.Pro548Leu	missense variant	-	NC_000003.12:g.134159306G>A	TOPMed
rs375889971	p.Phe549Leu	missense variant	-	NC_000003.12:g.134159302G>C	ESP,ExAC,TOPMed,gnomAD
rs780732195	p.Glu550Lys	missense variant	-	NC_000003.12:g.134159301C>T	ExAC,gnomAD
rs780732195	p.Glu550Gln	missense variant	-	NC_000003.12:g.134159301C>G	ExAC,gnomAD
rs1439533248	p.Ala553Glu	missense variant	-	NC_000003.12:g.134159291G>T	TOPMed
rs745524156	p.Ala553Thr	missense variant	-	NC_000003.12:g.134159292C>T	ExAC,TOPMed,gnomAD
rs756838814	p.Leu555Val	missense variant	-	NC_000003.12:g.134159286G>C	ExAC,gnomAD
rs748716502	p.Arg560Gln	missense variant	-	NC_000003.12:g.134159270C>T	ExAC,TOPMed,gnomAD
rs755461371	p.Ala562Thr	missense variant	-	NC_000003.12:g.134159265C>T	ExAC,TOPMed,gnomAD
rs755461371	p.Ala562Pro	missense variant	-	NC_000003.12:g.134159265C>G	ExAC,TOPMed,gnomAD
rs752044201	p.Ile565Val	missense variant	-	NC_000003.12:g.134159256T>C	ExAC,TOPMed,gnomAD
rs369924907	p.Asn566Ser	missense variant	-	NC_000003.12:g.134159252T>C	ESP,TOPMed
rs766852922	p.Cys567Ser	missense variant	-	NC_000003.12:g.134159249C>G	ExAC,TOPMed,gnomAD
rs758826987	p.Pro568Thr	missense variant	-	NC_000003.12:g.134159247G>T	ExAC,gnomAD
rs1201595587	p.Ala576Pro	missense variant	-	NC_000003.12:g.134158251C>G	gnomAD
rs1458679545	p.Cys577Tyr	missense variant	-	NC_000003.12:g.134158247C>T	TOPMed
rs1484520223	p.Ala580Val	missense variant	-	NC_000003.12:g.134158238G>A	gnomAD
rs374382478	p.Leu581Ser	missense variant	-	NC_000003.12:g.134158235A>G	ESP,ExAC,TOPMed,gnomAD
rs1300126758	p.Glu585Asp	missense variant	-	NC_000003.12:g.134158222C>A	gnomAD
rs56149724	p.Cys595Tyr	missense variant	-	NC_000003.12:g.134158193C>T	ExAC,TOPMed,gnomAD
rs1200565217	p.Thr597Ile	missense variant	-	NC_000003.12:g.134158187G>A	TOPMed
rs368597652	p.Ala601Thr	missense variant	-	NC_000003.12:g.134158176C>T	ESP,ExAC,TOPMed,gnomAD
rs146665782	p.Ala605Pro	missense variant	-	NC_000003.12:g.134158164C>G	gnomAD
rs1171942439	p.Ala605Val	missense variant	-	NC_000003.12:g.134158163G>A	TOPMed
rs146665782	p.Ala605Thr	missense variant	-	NC_000003.12:g.134158164C>T	gnomAD
rs200256181	p.Val607Ile	missense variant	-	NC_000003.12:g.134158158C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0008924	Cleft upper lip	disease	LHGDN
C0008925	Cleft Palate	disease	BEFREE;CTD_human;LHGDN
C0023418	leukemia	disease	BEFREE
C0025268	Multiple Endocrine Neoplasia Type 2a	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0043094	Weight Gain	phenotype	CTD_human
C0085669	Acute leukemia	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0677886	Epithelial ovarian cancer	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1292772	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	disease	BEFREE
C1335167	Ovarian Mucinous Adenocarcinoma	disease	UNIPROT
C1833921	Familial medullary thyroid carcinoma	disease	BEFREE
C1837218	Cleft palate, isolated	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004888	transmembrane signaling receptor activity	IDA
GO:0005109	frizzled binding	ISS
GO:0005109	frizzled binding	NAS
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0017147	Wnt-protein binding	ISS
GO:0017147	Wnt-protein binding	NAS
GO:0042813	Wnt-activated receptor activity	ISS
GO:1904929	coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0004713	protein tyrosine kinase activity	IDA
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007165	signal transduction	TAS
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA
GO:0007275	multicellular organism development	IBA
GO:0007399	nervous system development	IBA
GO:0007409	axonogenesis	ISS
GO:0007409	axonogenesis	IBA
GO:0007409	axonogenesis	TAS
GO:0007411	axon guidance	ISS
GO:0007411	axon guidance	NAS
GO:0007416	synapse assembly	NAS
GO:0016055	Wnt signaling pathway	TAS
GO:0018108	peptidyl-tyrosine phosphorylation	IEA
GO:0022008	neurogenesis	NAS
GO:0022038	corpus callosum development	ISS
GO:0030182	neuron differentiation	ISS
GO:0031175	neuron projection development	ISS
GO:0033278	cell proliferation in midbrain	ISS
GO:0033674	positive regulation of kinase activity	IBA
GO:0035567	non-canonical Wnt signaling pathway	NAS
GO:0036518	chemorepulsion of dopaminergic neuron axon	ISS
GO:0043410	positive regulation of MAPK cascade	IDA
GO:0048705	skeletal system morphogenesis	IEA
GO:0048843	negative regulation of axon extension involved in axon guidance	IEA
GO:0060070	canonical Wnt signaling pathway	NAS
GO:0071679	commissural neuron axon guidance	ISS
GO:1904938	planar cell polarity pathway involved in axon guidance	ISS
GO:1904948	midbrain dopaminergic neuron differentiation	ISS
GO:1904953	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	ISS
GO:1904953	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	TAS
GO:0006468	protein phosphorylation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISS
GO:0005634	nucleus	NAS
GO:0005737	cytoplasm	ISS
GO:0005886	plasma membrane	ISS
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IBA
GO:0016020	membrane	ISS
GO:0016021	integral component of membrane	NAS
GO:0043235	receptor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-4086400	PCP/CE pathway	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of RYK mRNA	19114083
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of RYK mRNA	21346803
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RYK mRNA	19150397
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of RYK intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of RYK intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of RYK mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of RYK mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of RYK mRNA	15761015
D001280	Atrazine	Atrazine results in decreased expression of RYK mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of RYK intron	30157460
C006780	bisphenol A	bisphenol A results in decreased methylation of RYK intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of RYK mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of RYK intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of RYK mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of RYK mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of RYK gene	28505145
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of RYK mRNA	23650126
D002945	Cisplatin	Cisplatin results in increased expression of RYK mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of RYK mRNA	19549813
D003375	Coumestrol	Coumestrol results in decreased expression of RYK mRNA	19167446
D003907	Dexamethasone	Dexamethasone results in increased expression of RYK mRNA	20032058
D003907	Dexamethasone	Testosterone inhibits the reaction [Dexamethasone results in increased expression of RYK mRNA]	20032058
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of RYK mRNA	21266533
C000944	dicrotophos	dicrotophos results in decreased expression of RYK mRNA	28302478
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of RYK mRNA	26924002
D004041	Dietary Fats	Dietary Fats results in increased expression of RYK mRNA	19030233
D004041	Dietary Fats	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of RYK mRNA]	19030233
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of RYK mRNA	29432896
D018120	Finasteride	Finasteride results in increased expression of RYK mRNA	24136188
D005485	Flutamide	Flutamide results in increased expression of RYK mRNA	24136188
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of RYK mRNA	29432896
D019833	Genistein	Genistein results in increased expression of RYK mRNA	17341692
D005839	Gentamicins	Gentamicins results in decreased expression of RYK mRNA	22061828
C010974	glyphosate	glyphosate results in decreased methylation of RYK gene	31011160
C000593030	GSK-J4	GSK-J4 results in increased expression of RYK mRNA	29301935
C098607	JP8 aviation fuel	JP8 aviation fuel results in decreased expression of RYK protein	17337753
C013598	methoxyacetic acid	methoxyacetic acid affects the expression of RYK mRNA	20864626
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of RYK mRNA	23103053
D008777	Methyltestosterone	Methyltestosterone results in increased expression of RYK mRNA	29191790
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of RYK mRNA	19812364
C507134	ON 01910	ON 01910 results in decreased phosphorylation of RYK protein	25472472
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of RYK mRNA	25729387
C005290	oxybenzone	oxybenzone results in increased expression of RYK mRNA	22721600
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of RYK mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of RYK mRNA	29432896
C010313	pseudocumene	pseudocumene results in decreased expression of RYK protein	17337753
D011794	Quercetin	Quercetin results in decreased expression of RYK mRNA	21632981
D000077285	Rimonabant	Rimonabant affects the expression of RYK mRNA	19030233
D000077285	Rimonabant	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of RYK mRNA]	19030233
C009277	sodium arsenate	sodium arsenate results in increased expression of RYK mRNA	23922661
D000077210	Sunitinib	Sunitinib results in increased expression of RYK mRNA	31533062
D013739	Testosterone	Testosterone inhibits the reaction [Dexamethasone results in increased expression of RYK mRNA]	20032058
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of RYK mRNA	21570461
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of RYK mRNA	25729387
C022884	undecane	undecane results in decreased expression of RYK protein	17337753
D014635	Valproic Acid	Valproic Acid affects the expression of RYK mRNA	25979313
D000077337	Vorinostat	Vorinostat results in increased expression of RYK mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0963	Cytoplasm
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0418	Kinase
KW-0472	Membrane
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0829	Tyrosine-protein kinase
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR001245	Ser-Thr/Tyr_kinase_cat_dom
IPR008266	Tyr_kinase_AS
IPR003306	WIF
IPR038677	WIF_sf

PROSITE

PROSITE ID	PROSITE Term
PS50011	PROTEIN_KINASE_DOM
PS00109	PROTEIN_KINASE_TYR
PS50814	WIF

Pfam

Pfam ID	Pfam Term
PF07714	Pkinase_Tyr
PF02019	WIF

Gene: RYK

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction