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

4 papers

NM_000052.7

p.R1335_N1336Splc

c.4005+5G>A

Surrounding Variants

1 paper

NM_000052.7

p.R1335_N1336Splc

c.4005+6T>C

1 paper

NM_000052.7

p.R1335_N1336Splc

c.4005+1G>A

1 paper

NM_000052.7

p.R1335_N1336Splc

c.4005+1G>T

1 paper

NM_000052.7

p.R1335G

c.4003A>G

1 paper

NM_000052.7

p.R1335delFs

c.4004delG

1 paper

NM_000052.7

p.L1333W

c.3998T>G

1 paper

NM_000052.7

p.E1327G

c.3980A>G

11 papers

NM_000052.7

p.A1325V

c.3974C>T

1 paper

NM_000052.7

p.V1324I

c.3970G>A

1 paper

NM_000052.7

p.A1317P

c.3949G>C

1 paper

NM_000052.7

p.I1316S

c.3947T>G

1 paper

NM_000052.7

p.I1316insFs

c.3946dupA