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.N368S

c.1103A>G

Surrounding Variants

1 paper

NM_021625.5

p.N368N

c.1104C>T

1 paper

NM_021625.5

p.D369N

c.1105G>A

1 paper

NM_021625.5

p.G370S

c.1108G>A

1 paper

NM_021625.5

p.V365M

c.1093G>A

1 paper

NM_021625.5

p.S372L

c.1115C>T

1 paper

NM_021625.5

p.P373A

c.1117C>G

1 paper

NM_021625.5

p.D359N

c.1075G>A

1 paper

NM_021625.5

p.T380A

c.1138A>G

1 paper

NM_021625.5

p.T380M

c.1139C>T

1 paper

NM_021625.5

p.L356V

c.1066C>G

1 paper

NM_021625.5

p.A354V

c.1061C>T

1 paper

NM_021625.5

p.K382delFs

c.1146delC