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.S277_T278delFs

c.830_833del4

Surrounding Variants

1 paper

NM_000052.7

p.T278P

c.832A>C

1 paper

NM_000052.7

p.T280delFs

c.839delC

2 papers

NM_000052.7

p.I282delFs

c.845delT

1 paper

NM_000052.7

p.I282I

c.846C>T

1 paper

NM_000052.7

p.I283S

c.848T>G

1 paper

NM_000052.7

p.G285D

c.854G>A

1 paper

NM_000052.7

p.M286L

c.856A>T

1 paper

NM_000052.7

p.C288S

c.862T>A

1 paper

NM_000052.7

p.S266Fs

c.796_798delinsCCFs

1 paper

NM_000052.7

p.C288S

c.863G>C

1 paper

NM_000052.7

p.K289fs

c.865_866fs

2 papers

NM_000052.7

p.E264*

c.790G>T