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.P403L

c.1208C>T

Surrounding Variants

1 paper

NM_000052.7

p.S400L

c.1199C>T

1 paper

NM_000052.7

p.S400T

c.1198T>A

1 paper

NM_000052.7

p.I399I

c.1197A>T

1 paper

NM_000052.7

p.S407C

c.1220C>G

1 paper

NM_000052.7

p.I399T

c.1196T>C

1 paper

NM_000052.7

p.R409G

c.1225C>G

4 papers

NM_000052.7

p.R409*

c.1225C>T

1 paper

NM_000052.7

p.G397_V398ins8

c.1189_1193ins24

1 paper

NM_000052.7

p.V410F

c.1228G>T

1 paper

NM_000052.7

p.V410delFs

c.1229delT

1 paper

NM_000052.7

p.E396*

c.1186G>T

1 paper

NM_000052.7

p.L412delFs

c.1234delC