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

13 papers

NM_018646.6

p.I223T

c.668T>C

Surrounding Variants

1 paper

NM_018646.6

p.R220R

c.660G>A

1 paper

NM_018646.6

p.R220Q

c.659G>A

1 paper

NM_018646.6

p.R220W

c.658C>T

1 paper

NM_018646.6

p.G226G

c.678A>T

4 papers

NM_018646.6

p.C212Y

c.635G>A

3 papers

NM_018646.6

p.A210V

c.629C>T

1 paper

NM_018646.6

p.P206A

c.616C>G

1 paper

NM_018646.6

p.H205R

c.614A>G

1 paper

NM_018646.6

p.H205Y

c.613C>T

1 paper

NM_018646.6

p.V239M

c.715G>A

1 paper

NM_018646.6

p.V239E

c.716T>A

1 paper

NM_018646.6

p.I242T

c.725T>C