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.R66W

c.196C>T

Surrounding Variants

1 paper

NM_018646.6

p.A70T

c.208G>A

1 paper

NM_018646.6

p.S72N

c.215G>A

1 paper

NM_018646.6

p.R73G

c.217C>G

2 papers

NM_018646.6

p.R73Q

c.218G>A

1 paper

NM_018646.6

p.Q80E

c.238C>G

2 papers

NM_018646.6

p.K82fs

c.244_245fs

1 paper

NM_018646.6

p.K82E

c.244A>G

1 paper

NM_018646.6

p.K82R

c.245A>G

2 papers

NM_018646.6

p.K82delFs

c.245delT

1 paper

NM_018646.6

p.E48D

c.144G>T

1 paper

NM_018646.6

p.G42D

c.125G>A

2 papers

NM_018646.6

p.R25_W27delFs

c.75_81del7