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.V767L

c.2299G>C

Surrounding Variants

6 papers

NM_000052.7

p.V767insFs

c.2299_2300insC

1 paper

NM_000052.7

p.V767insFs

c.2299_2300insG

2 papers

NM_000052.7

p.A768G

c.2303C>G

3 papers

NM_000052.7

p.A768V

c.2303C>T

1 paper

NM_000052.7

p.A768_M769insFs

c.2304_2305insC

2 papers

NM_000052.7

p.M769L

c.2305A>C

3 papers

NM_000052.7

p.M769V

c.2305A>G

2 papers

NM_000052.7

p.M769L

c.2305A>T

1 paper

NM_000052.7

p.L765F

c.2293C>T

1 paper

NM_000052.7

p.M769I

c.2307G>A

1 paper

NM_000052.7

p.M769I

c.2307G>C

1 paper

NM_000052.7

p.M769I

c.2307G>T