Varaico: Literature-Extracted Genetic Variants

TRPV3

192 papers

RefSeq Summary

This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this f...

Pfam Domains

Ank_2aa 123–245UCSCAnkyrin repeats (3 copies)

Ankaa 261–294UCSCAnkyrin repeat

Ankaa 340–366UCSCAnkyrin repeat

YVC1_Caa 482–708UCSCCalcium channel YVC1-like, C-terminal

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 3

HGNC Alias Symbol

VRL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145068.4

p.N647D

c.1939A>G

Surrounding Variants

2 papers

NM_145068.4

p.N647Y

c.1939A>T

1 paper

NM_145068.4

p.Q646E

c.1936C>G

2 papers

NM_145068.4

p.I644S

c.1931T>G

1 paper

NM_145068.4

p.I644F

c.1930A>T

1 paper

NM_145068.4

p.Y650F

c.1949A>T

3 papers

NM_145068.4

p.N643S

c.1928A>G

1 paper

NM_145068.4

p.N643D

c.1927A>G

1 paper

NM_145068.4

p.N643insFs

c.1927_1928insT

5 papers

NM_145068.4

p.D641N

c.1921G>A

1 paper

NM_145068.4

p.L653V

c.1957C>G

1 paper

NM_145068.4

p.F654Y

c.1961T>A

2 papers

NM_145068.4

p.L639M

c.1915C>A