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.P340Q

c.1019C>A

Surrounding Variants

1 paper

NM_000052.7

p.P340L

c.1019C>T

1 paper

NM_000052.7

p.G341A

c.1022G>C

1 paper

NM_000052.7

p.Y343insFs

c.1027_1028insT

1 paper

NM_000052.7

p.Y343fs

c.1027_1028fs

1 paper

NM_000052.7

p.V338delFs

c.1012delG

2 papers

NM_000052.7

p.A337T

c.1009G>A

1 paper

NM_000052.7

p.Y343*

c.1029T>A

1 paper

NM_000052.7

p.Y343*

c.1029T>G

1 paper

NM_000052.7

p.R344_V345delFs

c.1032_1033delAG

1 paper

NM_000052.7

p.R344fs

c.1030_1031fs

2 papers

NM_000052.7

p.R344R

c.1030A>C

3 papers

NM_000052.7

p.R344G

c.1030A>G