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

58 papers

NM_021625.5

p.V620I

c.1858G>A

Surrounding Variants

1 paper

NM_021625.5

p.V620F

c.1858G>T

1 paper

NM_021625.5

p.L619Fs

c.1857delinsCTFs

1 paper

NM_021625.5

p.V620A

c.1859T>C

2 papers

NM_021625.5

p.L619delins

c.1856_1857delinsCT

1 paper

NM_021625.5

p.L619R

c.1856T>G

12 papers

NM_021625.5

p.L619P

c.1856T>C

8 papers

NM_021625.5

p.L619F

c.1855C>T

1 paper

NM_021625.5

p.L619I

c.1855C>A

26 papers

NM_021625.5

p.L618P

c.1853T>C

5 papers

NM_021625.5

p.L618Q

c.1853T>A

33 papers

NM_021625.5

p.F617L

c.1851C>G

33 papers

NM_021625.5

p.F617L

c.1851C>A