Varaico: Literature-Extracted Genetic Variants

TRPV2

92 papers

RefSeq Summary

This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It ...

Pfam Domains

Ank_2aa 79–193UCSCAnkyrin repeats (3 copies)

Ion_transaa 387–657UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 2

HGNC Alias Symbols

VRL; VRL-1; VRL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016113.5

p.Q285*

c.853C>T

Surrounding Variants

1 paper

NM_016113.5

p.G277E

c.830G>A

3 papers

NM_016113.5

p.L265P

c.794T>C

1 paper

NM_016113.5

p.V248V

c.744C>G

1 paper

NM_016113.5

p.T247R

c.740C>G

1 paper

NM_016113.5

p.Q234H

c.702G>C

1 paper

NM_016113.5

p.Q234H

c.702G>T

1 paper

NM_016113.5

p.G209delFs

c.627delT

1 paper

NM_016113.5

p.F208delFs

c.622_623delTT

1 paper

NM_016113.5

p.G201S

c.601G>A

1 paper

NM_016113.5

p.Q199Q

c.597G>A

1 paper

NM_016113.5

p.S175N

c.524G>A

1 paper

NM_016113.5

p.D129E

c.387C>A