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

1–12 of 224 variants

13 papers

NM_018646.6

p.I223T

c.668T>C

7 papers

NM_018646.6

p.G660R

c.1978G>C

7 papers

NM_018646.6

p.G660R

c.1978G>A

6 papers

NM_018646.6

p.A18S

c.52G>T

6 papers

NM_018646.6

p.C197R

c.589T>C

6 papers

NM_018646.6

p.M418V

c.1252A>G

6 papers

NM_018646.6

p.G428R

c.1282G>C

6 papers

NM_018646.6

p.G428R

c.1282G>A

6 papers

NM_018646.6

p.R483W

c.1447C>T

6 papers

NM_018646.6

p.M721T

c.2162T>C

5 papers

NM_018646.6

p.L299Q

c.896T>A

5 papers

NM_018646.6

p.R345H

c.1034G>A