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

13 papers

NM_000052.7

p.N1304S

c.3911A>G

Surrounding Variants

4 papers

NM_000052.7

p.N1304K

c.3912T>A

4 papers

NM_000052.7

p.N1304K

c.3912T>G

1 paper

NM_000052.7

p.D1305_P1307delFs

c.3915_3921del7

5 papers

NM_000052.7

p.D1305A

c.3914A>C

2 papers

NM_000052.7

p.D1305G

c.3914A>G

2 papers

NM_000052.7

p.D1305E

c.3915C>A

2 papers

NM_000052.7

p.D1305E

c.3915C>G

2 papers

NM_000052.7

p.G1302E

c.3905G>A

6 papers

NM_000052.7

p.G1302V

c.3905G>T

11 papers

NM_000052.7

p.G1302R

c.3904G>A

8 papers

NM_000052.7

p.G1302R

c.3904G>C

1 paper

NM_000052.7

p.D1301G

c.3902A>G