Varaico: Literature-Extracted Genetic Variants

TRPV6

137 papers

RefSeq Summary

This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assemb...

Pfam Domains

Ank_2aa 86–187UCSCAnkyrin repeats (3 copies)

Ankaa 202–234UCSCAnkyrin repeat

Ion_transaa 366–630UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily V member 6

HGNC Previous Symbol

ECAC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_018646.6

p.M418V

c.1252A>G

Surrounding Variants

2 papers

NM_018646.6

p.R425W

c.1273C>T

4 papers

NM_018646.6

p.R425Q

c.1274G>A

6 papers

NM_018646.6

p.G428R

c.1282G>C

6 papers

NM_018646.6

p.G428R

c.1282G>A

1 paper

NM_018646.6

p.T432S

c.1294A>T

1 paper

NM_018646.6

p.T432S

c.1295C>G

2 papers

NM_018646.6

p.I434T

c.1301T>C

1 paper

NM_018646.6

p.A436D

c.1307C>A

1 paper

NM_018646.6

p.E443K

c.1327G>A

2 papers

NM_018646.6

p.G451A

c.1352G>C

4 papers

NM_018646.6

p.G451E

c.1352G>A

2 papers

NM_018646.6

p.R454C

c.1360C>T