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.Y321Y

c.963T>C

Surrounding Variants

1 paper

NM_000052.7

p.A323G

c.968C>G

1 paper

NM_000052.7

p.I318N

c.953T>A

1 paper

NM_000052.7

p.A317S

c.949G>T

15 papers

NM_000052.7

p.T327I

c.980C>T

1 paper

NM_000052.7

p.R315W

c.943A>T

1 paper

NM_000052.7

p.N314S

c.941A>G

1 paper

NM_000052.7

p.S311insFs

c.933dupT

1 paper

NM_000052.7

p.R332delFs

c.996delA

1 paper

NM_000052.7

p.S311fs

c.931_932fs

1 paper

NM_000052.7

p.K333R

c.998A>G

3 papers

NM_000052.7

p.A334T

c.1000G>A

1 paper

NM_000052.7

p.A334fs

c.1000_1001fs