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

32 papers

NM_021625.5

p.D333G

c.998A>G

Surrounding Variants

1 paper

NM_021625.5

p.D333Y

c.997G>T

1 paper

NM_021625.5

p.D333H

c.997G>C

1 paper

NM_021625.5

p.D333del1

c.997_998delGTC

16 papers

NM_021625.5

p.I331T

c.992T>C

1 paper

NM_021625.5

p.T335N

c.1004C>A

25 papers

NM_021625.5

p.I331F

c.991A>T

1 paper

NM_021625.5

p.R336C

c.1006C>T

2 papers

NM_021625.5

p.D333_E337del0

c.999_1010del12

1 paper

NM_021625.5

p.E337_N338delFs

c.1011_1014del4

1 paper

NM_021625.5

p.A327V

c.980C>T

1 paper

NM_021625.5

p.A327G

c.980C>G

22 papers

NM_021625.5

p.V342F

c.1024G>T