Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

6331

Name

SCN5A

Synonymous

CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;sodium channel, voltage-gated, type V, alpha subunit;SCN5A;sodium channel, voltage-gated, type V, alpha subunit

Definition

cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit|sodium channel protein cardiac muscle subunit alpha|sodium channel protein type 5 subunit alpha|voltage-gated sodium channel subunit alpha Nav1.5

Position

3p21

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SCN5A

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.T1304T; chr3:38603957-38603957

lungadenocarcinoma; carcinoma

p.L325L; chr3:38649665-38649665

lungadenocarcinoma; carcinoma

p.R965H; chr3:38622756-38622756

lungsquamous_cell_carcinoma; carcinoma

p.Y1889Y; chr3:38592196-38592196

lungadenocarcinoma; carcinoma

p.L938L; chr3:38622838-38622838

lungadenocarcinoma; carcinoma

p.S524S; chr3:38645521-38645521

lungsquamous_cell_carcinoma; carcinoma

p.Q1476H; chr3:38597941-38597941

lungadenocarcinoma; carcinoma

p.I1630I; chr3:38592973-38592973

lungadenocarcinoma; carcinoma

p.I1377I; chr3:38601752-38601752

lungsquamous_cell_carcinoma; carcinoma

p.R15S; chr3:38674754-38674754

lungsquamous_cell_carcinoma; carcinoma

p.S645S; chr3:38640497-38640497

lungadenocarcinoma; carcinoma

p.R1583P; chr3:38595835-38595835

lungadenocarcinoma; carcinoma

p.A994S; chr3:38622670-38622670

lungadenocarcinoma; carcinoma

p.V751V; chr3:38639229-38639229

lungsquamous_cell_carcinoma; carcinoma

p.G1297V; chr3:38603979-38603979

lungsquamous_cell_carcinoma; carcinoma

p.V1082G; chr3:38620970-38620970

lungsquamous_cell_carcinoma; carcinoma

p.K91N; chr3:38674526-38674526

lungadenocarcinoma; carcinoma

p.W1258C; chr3:38607966-38607966

lungadenocarcinoma; carcinoma

p.S1815Y; chr3:38592419-38592419

lungsmall_cell_carcinoma; carcinoma

p.A1882A; chr3:38592217-38592217

lungadenocarcinoma; carcinoma

p.E1240Q; chr3:38608022-38608022

lungadenocarcinoma; carcinoma

p.Y1241N; chr3:38608019-38608019

lungadenocarcinoma; carcinoma

p.R43*; chr3:38674672-38674672

lungadenocarcinoma; carcinoma

p.R18L; chr3:38674746-38674746

lungadenocarcinoma; carcinoma

p.G1068V; chr3:38622447-38622447

lungadenocarcinoma; carcinoma

p.T1268T; chr3:38607936-38607936

lungadenocarcinoma; carcinoma

p.E1876*; chr3:38592237-38592237

lungadenocarcinoma; carcinoma

p.S1333Y; chr3:38601885-38601885

lungadenocarcinoma; carcinoma

p.L1338I; chr3:38601871-38601871

lungadenocarcinoma; carcinoma

p.G1068V; chr3:38622447-38622447

lungadenocarcinoma; carcinoma

p.V668I; chr3:38640430-38640430

lungadenocarcinoma; carcinoma

p.?; chr3:38649714-38649714

lungsquamous_cell_carcinoma; carcinoma

p.E747*; chr3:38639243-38639243

lungadenocarcinoma; carcinoma

p.L860P; chr3:38627390-38627390

lungadenocarcinoma; carcinoma

p.?; chr3:38662466-38662466

lungadenocarcinoma; carcinoma

p.G1743R; chr3:38592636-38592636

lungsquamous_cell_carcinoma; carcinoma

p.D349Y; chr3:38648255-38648255

lungadenocarcinoma; carcinoma

p.G1639V; chr3:38592947-38592947

lungadenocarcinoma; carcinoma

p.M715I; chr3:38639337-38639337

lungsquamous_cell_carcinoma; carcinoma

p.A361T; chr3:38648219-38648219

lungadenocarcinoma; carcinoma

p.L266F; chr3:38651363-38651363

lungadenocarcinoma; carcinoma

p.H445P; chr3:38647446-38647446

lungsquamous_cell_carcinoma; carcinoma

p.D872N; chr3:38627355-38627355

lungsquamous_cell_carcinoma; carcinoma

p.V1279I; chr3:38607905-38607905

lungadenocarcinoma; carcinoma

p.S1104Y; chr3:38620904-38620904

lungadenocarcinoma; carcinoma

p.L1194L; chr3:38616872-38616872

lungsquamous_cell_carcinoma; carcinoma

p.V412V; chr3:38647544-38647544

lungadenocarcinoma; carcinoma

p.A1677T; chr3:38592834-38592834

lungsquamous_cell_carcinoma; carcinoma


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