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

59 papers

NM_021625.5

p.R269H

c.806G>A

Surrounding Variants

58 papers

NM_021625.5

p.R269C

c.805C>T

2 papers

NM_021625.5

p.R269S

c.805C>A

15 papers

NM_021625.5

p.G270V

c.809G>T

1 paper

NM_021625.5

p.G270G

c.810G>A

1 paper

NM_021625.5

p.Q267H

c.801G>T

1 paper

NM_021625.5

p.Q267H

c.801G>C

1 paper

NM_021625.5

p.G270delFs

c.808_809delCC

15 papers

NM_021625.5

p.R271P

c.812G>C

2 papers

NM_021625.5

p.R271H

c.812G>A

2 papers

NM_021625.5

p.F272L

c.814T>C

1 paper

NM_021625.5

p.F272I

c.814T>A

1 paper

NM_021625.5

p.A266V

c.797C>T