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

15 papers

NM_000052.7

p.C1000R

c.2998T>C

Surrounding Variants

1 paper

NM_000052.7

p.C1000*

c.3000T>A

1 paper

NM_000052.7

p.P1001S

c.3001C>T

3 papers

NM_000052.7

p.P1001L

c.3002C>T

1 paper

NM_000052.7

p.S1003P

c.3007T>C

1 paper

NM_000052.7

p.L1004L

c.3010C>T

4 papers

NM_000052.7

p.G1005R

c.3013G>A

3 papers

NM_000052.7

p.G1005R

c.3013G>C

1 paper

NM_000052.7

p.V995F

c.2983G>T

1 paper

NM_000052.7

p.G1005E

c.3014G>A

2 papers

NM_000052.7

p.G1005V

c.3014G>T

22 papers

NM_000052.7

p.T994I

c.2981C>T

1 paper

NM_000052.7

p.T994A

c.2980A>G