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.K256E

c.766A>G

Surrounding Variants

1 paper

NM_000052.7

p.L255L

c.763C>T

2 papers

NM_000052.7

p.P259_V260insFs

c.777_778insC

1 paper

NM_000052.7

p.V252L

c.754G>C

1 paper

NM_000052.7

p.V252delFs

c.754delG

1 paper

NM_000052.7

p.D251H

c.751G>C

1 paper

NM_000052.7

p.D251_E253del3

c.751_758del9

1 paper

NM_000052.7

p.I250T

c.749T>C

2 papers

NM_000052.7

p.E264*

c.790G>T

1 paper

NM_000052.7

p.L247*

c.740T>A

1 paper

NM_000052.7

p.K246N

c.738A>T

1 paper

NM_000052.7

p.S266Fs

c.796_798delinsCCFs

1 paper

NM_000052.7

p.K243N

c.729G>C