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

33 papers

NM_021625.5

p.F617L

c.1849T>C

Surrounding Variants

2 papers

NM_021625.5

p.R616L

c.1847G>T

46 papers

NM_021625.5

p.R616Q

c.1847G>A

33 papers

NM_021625.5

p.F617L

c.1851C>G

33 papers

NM_021625.5

p.F617L

c.1851C>A

4 papers

NM_021625.5

p.R616G

c.1846C>G

26 papers

NM_021625.5

p.L618P

c.1853T>C

5 papers

NM_021625.5

p.L618Q

c.1853T>A

8 papers

NM_021625.5

p.L619F

c.1855C>T

1 paper

NM_021625.5

p.L619I

c.1855C>A

1 paper

NM_021625.5

p.L619R

c.1856T>G

12 papers

NM_021625.5

p.L619P

c.1856T>C

2 papers

NM_021625.5

p.L619delins

c.1856_1857delinsCT