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.R174*

c.520C>T

Surrounding Variants

1 paper

NM_018646.6

p.R174Q

c.521G>A

1 paper

NM_018646.6

p.V173G

c.518T>G

1 paper

NM_018646.6

p.V173fs

c.517_518fs

2 papers

NM_018646.6

p.L172L

c.516G>C

1 paper

NM_018646.6

p.A175D

c.524C>A

2 papers

NM_018646.6

p.L172P

c.515T>C

1 paper

NM_018646.6

p.L172M

c.514C>A

1 paper

NM_018646.6

p.M170T

c.509T>C

1 paper

NM_018646.6

p.L177_A178insFs

c.530_533dup4

1 paper

NM_018646.6

p.R179C

c.535C>T

1 paper

NM_018646.6

p.R179fs

c.535_536fs

1 paper

NM_018646.6

p.R179H

c.536G>A