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

1–12 of 164 variants

14 papers

NM_019841.7

p.D188V

c.563A>T

13 papers

NM_019841.7

p.L530R

c.1589T>G

9 papers

NM_019841.7

p.A8V

c.23C>T

9 papers

NM_019841.7

p.L712F

c.2136G>T

9 papers

NM_019841.7

p.L712F

c.2136G>C

8 papers

NM_019841.7

p.D542A

c.1625A>C

6 papers

NM_019841.7

p.A561T

c.1681G>A

4 papers

NM_019841.7

p.A576T

c.1726G>A

3 papers

NM_019841.7

p.R302Q

c.905G>A

3 papers

NM_019841.7

p.V598M

c.1792G>A

2 papers

NM_019841.7

p.H154R

c.461A>G

2 papers

NM_019841.7

p.D188A

c.563A>C