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

5 papers

NM_018646.6

p.L299Q

c.896T>A

Surrounding Variants

1 paper

NM_018646.6

p.W308*

c.923G>A

1 paper

NM_018646.6

p.W308*

c.924G>A

3 papers

NM_018646.6

p.T309M

c.926C>T

2 papers

NM_018646.6

p.G311V

c.932G>T

1 paper

NM_018646.6

p.D319N

c.955G>A

1 paper

NM_018646.6

p.I323V

c.967A>G

4 papers

NM_018646.6

p.D324N

c.970G>A

1 paper

NM_018646.6

p.S326_G327delFs

c.978_979delCT

1 paper

NM_018646.6

p.S331A

c.991T>G

1 paper

NM_018646.6

p.T338I

c.1013C>T

2 papers

NM_018646.6

p.R342W

c.1024C>T

3 papers

NM_018646.6

p.R342Q

c.1025G>A