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.C291G

c.871T>G

Surrounding Variants

2 papers

NM_000052.7

p.S290*

c.869C>A

1 paper

NM_000052.7

p.S290*

c.869C>G

1 paper

NM_000052.7

p.K289fs

c.865_866fs

1 paper

NM_000052.7

p.S293L

c.878C>T

1 paper

NM_000052.7

p.C288S

c.863G>C

1 paper

NM_000052.7

p.N294Y

c.880A>T

1 paper

NM_000052.7

p.C288S

c.862T>A

1 paper

NM_000052.7

p.N294insFs

c.881_882insC

1 paper

NM_000052.7

p.M286L

c.856A>T

1 paper

NM_000052.7

p.G285D

c.854G>A

1 paper

NM_000052.7

p.S297N

c.890G>A

1 paper

NM_000052.7

p.T298_L299delFs

c.893_897del5