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.L107W

c.320T>G

Surrounding Variants

1 paper

NM_000052.7

p.T106I

c.317C>T

1 paper

NM_000052.7

p.S105N

c.314G>A

1 paper

NM_000052.7

p.S105G

c.313A>G

1 paper

NM_000052.7

p.K109K

c.327G>A

1 paper

NM_000052.7

p.Q104*

c.310C>T

1 paper

NM_000052.7

p.T114I

c.341C>T

1 paper

NM_000052.7

p.W100_D101insA

c.298_302ins3

1 paper

NM_000052.7

p.L98L

c.292T>C

1 paper

NM_000052.7

p.K117E

c.349A>G

1 paper

NM_000052.7

p.T97A

c.289A>G

1 paper

NM_000052.7

p.I118delFs

c.353_354delTT

1 paper

NM_000052.7

p.A94T

c.280G>A