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.T1010A

c.3028A>G

Surrounding Variants

1 paper

NM_000052.7

p.T1010P

c.3028A>C

1 paper

NM_000052.7

p.A1011D

c.3032C>A

1 paper

NM_000052.7

p.T1008N

c.3023C>A

6 papers

NM_000052.7

p.A1007V

c.3020C>T

2 papers

NM_000052.7

p.A1007T

c.3019G>A

1 paper

NM_000052.7

p.V1014insFs

c.3040_3041insG

1 paper

NM_000052.7

p.M1013_G1015delFs

c.3039_3043del5

4 papers

NM_000052.7

p.L1006P

c.3017T>C

1 paper

NM_000052.7

p.G1015delFs

c.3044delG

1 paper

NM_000052.7

p.G1005E

c.3014G>A

2 papers

NM_000052.7

p.G1005V

c.3014G>T

4 papers

NM_000052.7

p.G1005R

c.3013G>A