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

1–12 of 681 variants

59 papers

NM_021625.5

p.R269H

c.806G>A

58 papers

NM_021625.5

p.R269C

c.805C>T

58 papers

NM_021625.5

p.V620I

c.1858G>A

49 papers

NM_021625.5

p.R315W

c.943C>T

46 papers

NM_021625.5

p.R616Q

c.1847G>A

45 papers

NM_021625.5

p.R594H

c.1781G>A

45 papers

NM_021625.5

p.P799L

c.2396C>T

39 papers

NM_021625.5

p.R232C

c.694C>T

39 papers

NM_021625.5

p.R316C

c.946C>T

33 papers

NM_021625.5

p.F617L

c.1849T>C

33 papers

NM_021625.5

p.F617L

c.1851C>G

33 papers

NM_021625.5

p.F617L

c.1851C>A