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.L513P

c.1538T>C

Surrounding Variants

1 paper

NM_145068.4

p.D512A

c.1535A>C

1 paper

NM_145068.4

p.S515P

c.1543T>C

7 papers

NM_145068.4

p.W521S

c.1562G>C

1 paper

NM_145068.4

p.W521C

c.1563G>T

1 paper

NM_145068.4

p.W521C

c.1563G>C

1 paper

NM_145068.4

p.F522S

c.1565T>C

1 paper

NM_145068.4

p.E501_G502Splc

c.1504-2A>C

1 paper

NM_145068.4

p.E501G

c.1502A>G

1 paper

NM_145068.4

p.E501A

c.1502A>C

1 paper

NM_145068.4

p.A494D

c.1481C>A

1 paper

NM_145068.4

p.R487W

c.1459A>T

1 paper

NM_145068.4

p.L484F

c.1450C>T