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

9 papers

NM_000052.7

p.P972_G973Splc

c.2917-4A>G

Surrounding Variants

1 paper

NM_000052.7

p.Y974*

c.2922C>A

1 paper

NM_000052.7

p.Y974*

c.2922C>G

1 paper

NM_000052.7

p.S977R

c.2929A>C

1 paper

NM_000052.7

p.S977R

c.2931T>A

1 paper

NM_000052.7

p.S977R

c.2931T>G

10 papers

NM_000052.7

p.R980*

c.2938C>T

2 papers

NM_000052.7

p.R980Q

c.2939G>A

2 papers

NM_000052.7

p.E982*

c.2944G>T

1 paper

NM_000052.7

p.T983M

c.2948C>T

7 papers

NM_000052.7

p.R986*

c.2956C>T

3 papers

NM_000052.7

p.R986Q

c.2957G>A

1 paper

NM_000052.7

p.Q990K

c.2968C>A