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

18 papers

NM_000052.7

p.A629P

c.1885G>C

Surrounding Variants

1 paper

NM_000052.7

p.E628E

c.1884A>G

3 papers

NM_000052.7

p.E628V

c.1883A>T

1 paper

NM_000052.7

p.L631S

c.1892T>C

2 papers

NM_000052.7

p.K633_S637delFs

c.1898_1911del14

2 papers

NM_000052.7

p.G626A

c.1877G>C

1 paper

NM_000052.7

p.L631F

c.1893G>C

1 paper

NM_000052.7

p.L631F

c.1893G>T

1 paper

NM_000052.7

p.G626R

c.1876G>C

4 papers

NM_000052.7

p.L625*

c.1874T>A

4 papers

NM_000052.7

p.L625*

c.1874T>G

2 papers

NM_000052.7

p.K633fs

c.1897_1898fs

2 papers

NM_000052.7

p.K633R

c.1898A>G