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.R249H

c.746G>A

Surrounding Variants

1 paper

NM_021625.5

p.C250Y

c.749G>A

1 paper

NM_021625.5

p.R248H

c.743G>A

1 paper

NM_021625.5

p.R248C

c.742C>T

2 papers

NM_021625.5

p.K251E

c.751A>G

1 paper

NM_021625.5

p.E247*

c.739G>T

1 paper

NM_021625.5

p.I246M

c.738T>G

1 paper

NM_021625.5

p.I246T

c.737T>C

2 papers

NM_021625.5

p.Y253F

c.758A>T

1 paper

NM_021625.5

p.Y253delFs

c.757delA

1 paper

NM_021625.5

p.A245S

c.733G>T

1 paper

NM_021625.5

p.A245T

c.733G>A

1 paper

NM_021625.5

p.I244delFs

c.732delG