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.G489R

c.1465G>A

Surrounding Variants

3 papers

NM_018646.6

p.G489R

c.1465G>C

1 paper

NM_018646.6

p.S486_A487insFs

c.1458_1459insT

2 papers

NM_018646.6

p.V492L

c.1474G>T

2 papers

NM_018646.6

p.V492L

c.1474G>C

1 paper

NM_018646.6

p.S486G

c.1456A>G

2 papers

NM_018646.6

p.V492fs

c.1474_1475fs

2 papers

NM_018646.6

p.V492delFs

c.1474_1475delAC

1 paper

NM_018646.6

p.M494V

c.1480A>G

5 papers

NM_018646.6

p.R483Q

c.1448G>A

6 papers

NM_018646.6

p.R483W

c.1447C>T

2 papers

NM_018646.6

p.A473T

c.1417G>A

1 paper

NM_018646.6

p.M506R

c.1517T>G