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

Basic Information

Gene ID

59341

Name

TRPV4

Synonymous

CMT2C|HMSN2C|OTRPC4|SMAL|SPSMA|SSQTL1|TRP12|VRL2|VROAC;transient receptor potential cation channel, subfamily V, member 4;TRPV4;transient receptor potential cation channel, subfamily V, member 4

Definition

OSM9-like transient receptor potential channel 4|osm-9-like TRP channel 4|osmosensitive transient receptor potential channel 4|transient receptor potential cation channel subfamily V member 4|transient receptor potential protein 12|vanilloid receptor-like

Position

12q24.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for TRPV4

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.M482I; chr12:110232179-110232179

lungadenocarcinoma; carcinoma

p.S88C; chr12:110252339-110252339

lungsquamous_cell_carcinoma; carcinoma

p.R746L; chr12:110224614-110224614

lungadenocarcinoma; carcinoma

p.M482I; chr12:110232179-110232179

lungadenocarcinoma; carcinoma

p.P82P; chr12:110252356-110252356

lungsquamous_cell_carcinoma; carcinoma

p.F615Y; chr12:110230215-110230215

lungadenocarcinoma; carcinoma

p.R355L; chr12:110236507-110236507

lungadenocarcinoma; carcinoma

p.K379M; chr12:110236435-110236435

lungadenocarcinoma; carcinoma

p.A292A; chr12:110236695-110236695

lungadenocarcinoma; carcinoma

p.F471fs*64; chr12:110232213-110232213

lungadenocarcinoma; carcinoma

p.W123*; chr12:110252233-110252233

lungadenocarcinoma; carcinoma

p.P97S; chr12:110252313-110252313

lungadenocarcinoma; carcinoma

p.G370G; chr12:110236461-110236461

lungadenocarcinoma; carcinoma

p.H299N; chr12:110236676-110236676

lungsmall_cell_carcinoma; carcinoma


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