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.D347N

c.1039G>A

Surrounding Variants

2 papers

NM_021625.5

p.D347Y

c.1039G>T

1 paper

NM_021625.5

p.D347H

c.1039G>C

1 paper

NM_021625.5

p.K344E

c.1030A>G

1 paper

NM_021625.5

p.L351F

c.1051C>T

1 paper

NM_021625.5

p.L351V

c.1051C>G

22 papers

NM_021625.5

p.V342F

c.1024G>T

1 paper

NM_021625.5

p.K352ins1

c.1055_1056insTTT

1 paper

NM_021625.5

p.C353Y

c.1058G>A

1 paper

NM_021625.5

p.A354V

c.1061C>T

1 paper

NM_021625.5

p.E337_N338delFs

c.1011_1014del4

1 paper

NM_021625.5

p.L356V

c.1066C>G

2 papers

NM_021625.5

p.D333_E337del0

c.999_1010del12