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

16 papers

NM_000052.7

p.R201*

c.601C>T

Surrounding Variants

1 paper

NM_000052.7

p.R201del1

c.601_602delCGA

1 paper

NM_000052.7

p.Q200L

c.599A>T

1 paper

NM_000052.7

p.Q200delFs

c.600delG

1 paper

NM_000052.7

p.K203delFs

c.609delA

1 paper

NM_000052.7

p.K203E

c.607A>G

1 paper

NM_000052.7

p.V199I

c.595G>A

1 paper

NM_000052.7

p.V204Splc

c.610+1G>A

2 papers

NM_000052.7

p.Q197*

c.589C>T

2 papers

NM_000052.7

p.G194R

c.580G>A

1 paper

NM_000052.7

p.I193I

c.579T>C

1 paper

NM_000052.7

p.I189V

c.565A>G

1 paper

NM_000052.7

p.S187N

c.560G>A