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

6 papers

NM_021625.5

p.Y567*

c.1701C>G

Surrounding Variants

6 papers

NM_021625.5

p.Y567*

c.1701C>A

1 paper

NM_021625.5

p.A569G

c.1706C>G

1 paper

NM_021625.5

p.I571M

c.1713C>G

1 paper

NM_021625.5

p.E572Q

c.1714G>C

1 paper

NM_021625.5

p.E572K

c.1714G>A

1 paper

NM_021625.5

p.S563A

c.1687T>G

1 paper

NM_021625.5

p.E572A

c.1715A>C

3 papers

NM_021625.5

p.V562I

c.1684G>A

1 paper

NM_021625.5

p.A576V

c.1727C>T

1 paper

NM_021625.5

p.V577M

c.1729G>A

1 paper

NM_021625.5

p.S557A

c.1669T>G

1 paper

NM_021625.5

p.Y556*

c.1668C>A