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

1 paper

NM_019841.7

p.P207P

c.621C>G

Surrounding Variants

1 paper

NM_019841.7

p.Q206E

c.616C>G

1 paper

NM_019841.7

p.L203F

c.607C>T

2 papers

NM_019841.7

p.L200*

c.599T>A

1 paper

NM_019841.7

p.T198S

c.592A>T

1 paper

NM_019841.7

p.G224A

c.671G>C

1 paper

NM_019841.7

p.Q230K

c.688C>A

1 paper

NM_019841.7

p.P243fs

c.727_728fs

1 paper

NM_019841.7

p.F244I

c.730T>A

1 paper

NM_019841.7

p.P243delFs

c.729delG

1 paper

NM_019841.7

p.G248E

c.743G>A

1 paper

NM_019841.7

p.G251S

c.751G>A

14 papers

NM_019841.7

p.D188V

c.563A>T