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

6 papers

NM_018646.6

p.C197R

c.589T>C

Surrounding Variants

1 paper

NM_018646.6

p.N198S

c.593A>G

1 paper

NM_018646.6

p.R194H

c.581G>A

1 paper

NM_018646.6

p.R193C

c.577C>T

1 paper

NM_018646.6

p.R193G

c.577C>G

2 papers

NM_018646.6

p.G203Splc

c.607+5G>C

2 papers

NM_018646.6

p.G203Splc

c.607+5G>A

1 paper

NM_018646.6

p.R186S

c.558A>T

1 paper

NM_018646.6

p.S182R

c.544A>C

1 paper

NM_018646.6

p.R180W

c.538A>T

1 paper

NM_018646.6

p.R179H

c.536G>A

1 paper

NM_018646.6

p.R179C

c.535C>T

1 paper

NM_018646.6

p.R179fs

c.535_536fs