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.F231L

c.693C>A

Surrounding Variants

1 paper

NM_021625.5

p.F231L

c.693C>G

1 paper

NM_021625.5

p.F231C

c.692T>G

39 papers

NM_021625.5

p.R232C

c.694C>T

6 papers

NM_021625.5

p.R232S

c.694C>A

1 paper

NM_021625.5

p.F231L

c.691T>C

1 paper

NM_021625.5

p.R232P

c.695G>C

3 papers

NM_021625.5

p.R232H

c.695G>A

2 papers

NM_021625.5

p.Y235C

c.704A>G

1 paper

NM_021625.5

p.R237*

c.709C>T

9 papers

NM_021625.5

p.R237G

c.709C>G

14 papers

NM_021625.5

p.R237L

c.710G>T

1 paper

NM_021625.5

p.R237Q

c.710G>A