Varaico: Literature-Extracted Genetic Variants

TRPV4

497 papers

RefSeq Summary

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-...

Pfam Domains

Ankaa 237–269UCSCAnkyrin repeat

Ion_transaa 468–730UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 4

HGNC Alias Symbols

OTRPC4; TRP12; VROAC; VRL-2; VR-OAC; CMT2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

45 papers

NM_021625.5

p.P799L

c.2396C>T

Surrounding Variants

18 papers

NM_021625.5

p.P799R

c.2396C>G

3 papers

NM_021625.5

p.P799fs

c.2395_2396fs

12 papers

NM_021625.5

p.P799S

c.2395C>T

11 papers

NM_021625.5

p.P799A

c.2395C>G

1 paper

NM_021625.5

p.P799T

c.2395C>A

1 paper

NM_021625.5

p.G800S

c.2398G>A

4 papers

NM_021625.5

p.G800D

c.2399G>A

3 papers

NM_021625.5

p.E797D

c.2391G>T

3 papers

NM_021625.5

p.E797D

c.2391G>C

1 paper

NM_021625.5

p.K801E

c.2401A>G

1 paper

NM_021625.5

p.E797G

c.2390A>G

3 papers

NM_021625.5

p.E797A

c.2390A>C