Varaico: Literature-Extracted Genetic Variants

ATP7A

586 papers

RefSeq Summary

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-de...

Pfam Domains

HMAaa 11–72UCSCHeavy-metal-associated domain

HMAaa 174–235UCSCHeavy-metal-associated domain

HMAaa 280–339UCSCHeavy-metal-associated domain

HMAaa 380–441UCSCHeavy-metal-associated domain

HMAaa 492–552UCSCHeavy-metal-associated domain

HMAaa 567–628UCSCHeavy-metal-associated domain

Gene Aliases

HGNC Name

ATPase copper transporting alpha

HGNC Previous Symbol

MNK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000052.7

p.V204D

c.611T>A

Surrounding Variants

1 paper

NM_000052.7

p.S205P

c.613T>C

1 paper

NM_000052.7

p.L206V

c.616C>G

2 papers

NM_000052.7

p.L206R

c.617T>G

1 paper

NM_000052.7

p.N208S

c.623A>G

1 paper

NM_000052.7

p.E210D

c.630A>T

1 paper

NM_000052.7

p.I213T

c.638T>C

1 paper

NM_000052.7

p.V214insFs

c.641_642insC

1 paper

NM_000052.7

p.H218Y

c.652C>T

1 paper

NM_000052.7

p.I220fs

c.658_659fs

1 paper

NM_000052.7

p.S221L

c.662C>T

1 paper

NM_000052.7

p.E223K

c.667G>A

1 paper

NM_000052.7

p.I229T

c.686T>C