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.L173L

c.517C>T

Surrounding Variants

1 paper

NM_000052.7

p.V172M

c.514G>A

1 paper

NM_000052.7

p.M175insFs

c.523_524insA

1 paper

NM_000052.7

p.V171F

c.511G>T

1 paper

NM_000052.7

p.E170K

c.508G>A

1 paper

NM_000052.7

p.K176K

c.528A>G

1 paper

NM_000052.7

p.G169C

c.505G>T

3 papers

NM_000052.7

p.E178*

c.532G>T

1 paper

NM_000052.7

p.E178delFs

c.534delA

1 paper

NM_000052.7

p.E178G

c.533A>G

1 paper

NM_000052.7

p.Q167*

c.499C>T

1 paper

NM_000052.7

p.G179E

c.536G>A

1 paper

NM_000052.7

p.A166P

c.496G>C