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.D263D

c.789T>C

Surrounding Variants

2 papers

NM_021625.5

p.D263A

c.788A>C

1 paper

NM_021625.5

p.V264D

c.791T>A

2 papers

NM_021625.5

p.D263N

c.787G>A

1 paper

NM_021625.5

p.H265H

c.795C>T

1 paper

NM_021625.5

p.A266S

c.796G>T

1 paper

NM_021625.5

p.A266P

c.796G>C

1 paper

NM_021625.5

p.A266T

c.796G>A

1 paper

NM_021625.5

p.A266V

c.797C>T

1 paper

NM_021625.5

p.Q260R

c.779A>G

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.A259G

c.776C>G