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.S637L

c.1910C>T

Surrounding Variants

1 paper

NM_000052.7

p.S637*

c.1910C>A

1 paper

NM_000052.7

p.S637*

c.1910C>G

1 paper

NM_000052.7

p.R636W

c.1906C>T

2 papers

NM_000052.7

p.S639I

c.1916G>T

1 paper

NM_000052.7

p.S639R

c.1917T>G

2 papers

NM_000052.7

p.K633R

c.1898A>G

2 papers

NM_000052.7

p.L641S

c.1922T>C

2 papers

NM_000052.7

p.K633fs

c.1897_1898fs

3 papers

NM_000052.7

p.D642H

c.1924G>C

1 paper

NM_000052.7

p.L631F

c.1893G>C

1 paper

NM_000052.7

p.L631F

c.1893G>T

1 paper

NM_000052.7

p.L631S

c.1892T>C