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.I604N

c.1811T>A

Surrounding Variants

15 papers

NM_021625.5

p.I604M

c.1812C>G

1 paper

NM_021625.5

p.I604delins

c.1811_1812delinsAT

1 paper

NM_021625.5

p.S603T

c.1808G>C

19 papers

NM_021625.5

p.Y602C

c.1805A>G

4 papers

NM_021625.5

p.G600E

c.1799G>A

17 papers

NM_021625.5

p.G600W

c.1798G>T

2 papers

NM_021625.5

p.T599M

c.1796C>T

1 paper

NM_021625.5

p.T599A

c.1795A>G

1 paper

NM_021625.5

p.K608_I609Splc

c.1824+4C>G

1 paper

NM_021625.5

p.L598L

c.1792C>T

23 papers

NM_021625.5

p.L596P

c.1787T>C

1 paper

NM_021625.5

p.G595V

c.1784G>T