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.Q649Splc

c.1946+6T>G

Surrounding Variants

2 papers

NM_000052.7

p.Q649Splc

c.1946+6T>C

3 papers

NM_000052.7

p.Q649Splc

c.1946+5G>A

2 papers

NM_000052.7

p.Q649Splc

c.1946+5G>C

1 paper

NM_000052.7

p.Q649Splc

c.1946+4A>G

1 paper

NM_000052.7

p.Q649Splc

c.1946+2T>C

1 paper

NM_000052.7

p.Q649Splc

c.1946+1G>A

1 paper

NM_000052.7

p.Q649Splc

c.1946+1G>C

2 papers

NM_000052.7

p.Q649Splc

c.1946+1G>T

2 papers

NM_000052.7

p.R648K

c.1943G>A

1 paper

NM_000052.7

p.R648T

c.1943G>C

1 paper

NM_000052.7

p.I647M

c.1941A>G

12 papers

NM_000052.7

p.R645*

c.1933C>T