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.G433delFs

c.1298delG

Surrounding Variants

1 paper

NM_000052.7

p.G433G

c.1299A>T

1 paper

NM_000052.7

p.A434fs

c.1300_1301fs

1 paper

NM_000052.7

p.L431S

c.1292T>C

1 paper

NM_000052.7

p.I435delFs

c.1303delA

1 paper

NM_000052.7

p.T430T

c.1290G>A

3 papers

NM_000052.7

p.E429A

c.1286A>C

1 paper

NM_000052.7

p.T430_R432del3

c.1288_1295del9

1 paper

NM_000052.7

p.E436K

c.1306G>A

1 paper

NM_000052.7

p.S427Y

c.1280C>A

1 paper

NM_000052.7

p.L425R

c.1274T>G

2 papers

NM_000052.7

p.D441N

c.1321G>A

1 paper

NM_000052.7

p.D441V

c.1322A>T