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.L56L

c.166C>T

Surrounding Variants

1 paper

NM_000052.7

p.K55R

c.164A>G

1 paper

NM_000052.7

p.Q57insFs

c.171dupG

1 paper

NM_000052.7

p.Q57H

c.171G>C

1 paper

NM_000052.7

p.D53E

c.159C>G

1 paper

NM_000052.7

p.T58I

c.173C>T

1 paper

NM_000052.7

p.P59L

c.176C>T

1 paper

NM_000052.7

p.Y52H

c.154T>C

1 paper

NM_000052.7

p.I51S

c.152T>G

1 paper

NM_000052.7

p.I51insFs

c.151_152insC

1 paper

NM_000052.7

p.I51V

c.151A>G

1 paper

NM_000052.7

p.Q63*

c.187C>T

1 paper

NM_000052.7

p.N47K

c.141T>A