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.I189V

c.565A>G

Surrounding Variants

1 paper

NM_000052.7

p.S187N

c.560G>A

1 paper

NM_000052.7

p.C185_S187Fs

c.554_559delinsTGTGFs

1 paper

NM_000052.7

p.I193I

c.579T>C

2 papers

NM_000052.7

p.G194R

c.580G>A

1 paper

NM_000052.7

p.S184fs

c.550_551fs

1 paper

NM_000052.7

p.T181A

c.541A>G

2 papers

NM_000052.7

p.Q197*

c.589C>T

1 paper

NM_000052.7

p.G179E

c.536G>A

1 paper

NM_000052.7

p.V199I

c.595G>A

1 paper

NM_000052.7

p.E178G

c.533A>G

3 papers

NM_000052.7

p.E178*

c.532G>T

1 paper

NM_000052.7

p.E178delFs

c.534delA