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

24 papers

NM_000052.7

p.P1386S

c.4156C>T

Surrounding Variants

3 papers

NM_000052.7

p.Q1385*

c.4153C>T

3 papers

NM_000052.7

p.S1390P

c.4168T>C

1 paper

NM_000052.7

p.G1381G

c.4143T>A

1 paper

NM_000052.7

p.G1381D

c.4142G>A

4 papers

NM_000052.7

p.M1393V

c.4177A>G

1 paper

NM_000052.7

p.P1379S

c.4135C>T

2 papers

NM_000052.7

p.M1393T

c.4178T>C

1 paper

NM_000052.7

p.A1394S

c.4180G>T

1 paper

NM_000052.7

p.M1378insFs

c.4132dupA

1 paper

NM_000052.7

p.F1377S

c.4130T>C

1 paper

NM_000052.7

p.G1375A

c.4124G>C

1 paper

NM_000052.7

p.G1375fs

c.4123_4124fs