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.V1296I

c.3886G>A

Surrounding Variants

5 papers

NM_000052.7

p.R1295W

c.3883C>T

1 paper

NM_000052.7

p.A1297T

c.3889G>A

2 papers

NM_000052.7

p.M1298I

c.3894G>A

2 papers

NM_000052.7

p.M1298I

c.3894G>C

2 papers

NM_000052.7

p.M1298I

c.3894G>T

6 papers

NM_000052.7

p.G1300E

c.3899G>A

1 paper

NM_000052.7

p.D1301G

c.3902A>G

11 papers

NM_000052.7

p.G1302R

c.3904G>A

8 papers

NM_000052.7

p.G1302R

c.3904G>C

2 papers

NM_000052.7

p.G1302E

c.3905G>A

6 papers

NM_000052.7

p.G1302V

c.3905G>T

1 paper

NM_000052.7

p.L1289F

c.3865C>T