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.K333R

c.998A>G

Surrounding Variants

3 papers

NM_000052.7

p.A334T

c.1000G>A

1 paper

NM_000052.7

p.A334fs

c.1000_1001fs

1 paper

NM_000052.7

p.A334delFs

c.1002delA

1 paper

NM_000052.7

p.R332delFs

c.996delA

1 paper

NM_000052.7

p.E336K

c.1006G>A

1 paper

NM_000052.7

p.E336*

c.1006G>T

2 papers

NM_000052.7

p.E336V

c.1007A>T

2 papers

NM_000052.7

p.A337T

c.1009G>A

1 paper

NM_000052.7

p.V338delFs

c.1012delG

15 papers

NM_000052.7

p.T327I

c.980C>T

1 paper

NM_000052.7

p.P340Q

c.1019C>A

1 paper

NM_000052.7

p.P340L

c.1019C>T