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

2 papers

NM_000052.7

p.K742R

c.2225A>G

Surrounding Variants

1 paper

NM_000052.7

p.K740E

c.2218A>G

1 paper

NM_000052.7

p.A738T

c.2212G>A

1 paper

NM_000052.7

p.K737R

c.2210A>G

1 paper

NM_000052.7

p.V748I

c.2242G>A

1 paper

NM_000052.7

p.A735D

c.2204C>A

1 paper

NM_000052.7

p.I750T

c.2249T>C

1 paper

NM_000052.7

p.Q734K

c.2200C>A

1 paper

NM_000052.7

p.V751M

c.2251G>A

3 papers

NM_000052.7

p.V751L

c.2251G>T

3 papers

NM_000052.7

p.V751V

c.2253G>A

1 paper

NM_000052.7

p.L752V

c.2254C>G

1 paper

NM_000052.7

p.A753V

c.2258C>T