Varaico: Literature-Extracted Genetic Variants

TRPV5

176 papers

RefSeq Summary

This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylati...

Pfam Domains

Ank_2aa 49–147UCSCAnkyrin repeats (3 copies)

Ankaa 162–194UCSCAnkyrin repeat

Ion_transaa 327–590UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 5

HGNC Previous Symbol

ECAC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_019841.7

p.V598M

c.1792G>A

Surrounding Variants

1 paper

NM_019841.7

p.V602V

c.1806G>A

1 paper

NM_019841.7

p.R606Q

c.1817G>A

1 paper

NM_019841.7

p.K607E

c.1819A>G

1 paper

NM_019841.7

p.K607N

c.1821G>T

1 paper

NM_019841.7

p.K607N

c.1821G>C

1 paper

NM_019841.7

p.C619*

c.1857T>A

1 paper

NM_019841.7

p.C621G

c.1861T>G

1 paper

NM_019841.7

p.C621Y

c.1862G>A

2 papers

NM_019841.7

p.R628H

c.1883G>A

1 paper

NM_019841.7

p.R632W

c.1894C>T

1 paper

NM_019841.7

p.R632W

c.1894C>T

1 paper

NM_019841.7

p.Q639*

c.1915C>T