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.T354S

c.1061C>G

Surrounding Variants

1 paper

NM_000052.7

p.T354S

c.1060A>T

1 paper

NM_000052.7

p.S353insFs

c.1058_1059insC

1 paper

NM_000052.7

p.E352E

c.1056G>A

1 paper

NM_000052.7

p.S353_T354del2

c.1057_1061del6

1 paper

NM_000052.7

p.E352Q

c.1054G>C

1 paper

NM_000052.7

p.S361insFs

c.1081_1082insT

1 paper

NM_000052.7

p.S361fs

c.1081_1082fs

1 paper

NM_000052.7

p.S361L

c.1082C>T

1 paper

NM_000052.7

p.S346I

c.1037G>T

1 paper

NM_000052.7

p.S362S

c.1086T>C

1 paper

NM_000052.7

p.L363H

c.1088T>A

1 paper

NM_000052.7

p.R344fs

c.1030_1031fs