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

2 papers

NM_021625.5

p.S319L

c.956C>T

Surrounding Variants

1 paper

NM_021625.5

p.S319A

c.955T>G

1 paper

NM_021625.5

p.R320*

c.958C>T

1 paper

NM_021625.5

p.G321S

c.961G>A

2 papers

NM_021625.5

p.G321V

c.962G>T

1 paper

NM_021625.5

p.G321D

c.962G>A

1 paper

NM_021625.5

p.R316L

c.947G>T

24 papers

NM_021625.5

p.R316H

c.947G>A

39 papers

NM_021625.5

p.R316C

c.946C>T

1 paper

NM_021625.5

p.R315Q

c.944G>A

49 papers

NM_021625.5

p.R315W

c.943C>T

1 paper

NM_021625.5

p.R315G

c.943C>G

1 paper

NM_021625.5

p.V324G

c.971T>G