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.M506R

c.1517T>G

Surrounding Variants

3 papers

NM_018646.6

p.M506T

c.1517T>C

2 papers

NM_018646.6

p.Y507*

c.1521C>G

2 papers

NM_018646.6

p.Y507*

c.1521C>A

2 papers

NM_018646.6

p.F508del1

c.1522_1523delGAA

3 papers

NM_018646.6

p.R510*

c.1528C>T

1 paper

NM_018646.6

p.R510Q

c.1529G>A

2 papers

NM_018646.6

p.G516C

c.1546G>T

4 papers

NM_018646.6

p.G516S

c.1546G>A

1 paper

NM_018646.6

p.M494V

c.1480A>G

2 papers

NM_018646.6

p.V492delFs

c.1474_1475delAC

2 papers

NM_018646.6

p.V492L

c.1474G>T

2 papers

NM_018646.6

p.V492L

c.1474G>C