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

1 paper

NM_018646.6

p.R683W

c.2047C>T

Surrounding Variants

1 paper

NM_018646.6

p.A688V

c.2063C>T

1 paper

NM_018646.6

p.V673fs

c.2017_2018fs

1 paper

NM_018646.6

p.G695S

c.2083G>A

6 papers

NM_018646.6

p.M721T

c.2162T>C

1 paper

NM_018646.6

p.P715_V724del10

c.2143_2171del30

1 paper

NM_018646.6

p.R745*

c.2233A>T

2 papers

NM_018646.6

p.R672Splc

c.2015+2T>C

1 paper

NM_018646.6

p.R661W

c.1981C>T

1 paper

NM_018646.6

p.G660A

c.1979G>C

1 paper

NM_018646.6

p.G660E

c.1979G>A

7 papers

NM_018646.6

p.G660R

c.1978G>C

7 papers

NM_018646.6

p.G660R

c.1978G>A