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

1 paper

NM_021625.5

p.G595V

c.1784G>T

Surrounding Variants

23 papers

NM_021625.5

p.L596P

c.1787T>C

45 papers

NM_021625.5

p.R594H

c.1781G>A

1 paper

NM_021625.5

p.R594C

c.1780C>T

7 papers

NM_021625.5

p.R594S

c.1780C>A

2 papers

NM_021625.5

p.T593I

c.1778C>T

1 paper

NM_021625.5

p.L598L

c.1792C>T

22 papers

NM_021625.5

p.F592L

c.1776C>G

22 papers

NM_021625.5

p.F592L

c.1776C>A

22 papers

NM_021625.5

p.F592L

c.1774T>C

1 paper

NM_021625.5

p.T599A

c.1795A>G

2 papers

NM_021625.5

p.T599M

c.1796C>T

7 papers

NM_021625.5

p.Y591C

c.1772A>G