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

4 papers

NM_018646.6

p.R345C

c.1033C>T

Surrounding Variants

5 papers

NM_018646.6

p.R345H

c.1034G>A

1 paper

NM_018646.6

p.A344V

c.1031C>T

1 paper

NM_018646.6

p.A344fs

c.1030_1031fs

1 paper

NM_018646.6

p.Q346H

c.1038G>T

1 paper

NM_018646.6

p.Q346H

c.1038G>C

1 paper

NM_018646.6

p.E343_A344Splc

c.1030-2A>G

1 paper

NM_018646.6

p.P352P

c.1056G>A

1 paper

NM_018646.6

p.K360K

c.1080G>A

1 paper

NM_018646.6

p.R363Q

c.1088G>A

2 papers

NM_018646.6

p.G365E

c.1094G>A

1 paper

NM_018646.6

p.R366R

c.1098G>A

2 papers

NM_018646.6

p.E343_A344Splc

c.1029+1G>A