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

3 papers

NM_018646.6

p.L259*

c.776T>A

Surrounding Variants

2 papers

NM_018646.6

p.Y262*

c.786C>G

2 papers

NM_018646.6

p.Y262*

c.786C>A

2 papers

NM_018646.6

p.D263N

c.787G>A

1 paper

NM_018646.6

p.R264G

c.790A>G

2 papers

NM_018646.6

p.H268N

c.802C>A

1 paper

NM_018646.6

p.L274P

c.821T>C

1 paper

NM_018646.6

p.I242T

c.725T>C

1 paper

NM_018646.6

p.V239_I242delFs

c.715_724del10

1 paper

NM_018646.6

p.N277S

c.830A>G

1 paper

NM_018646.6

p.V239E

c.716T>A

1 paper

NM_018646.6

p.V239M

c.715G>A

1 paper

NM_018646.6

p.K285_L286delFs

c.854_857del4