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.V1368I

c.4102G>A

Surrounding Variants

4 papers

NM_000052.7

p.G1369R

c.4105G>A

4 papers

NM_000052.7

p.G1369R

c.4105G>C

3 papers

NM_000052.7

p.I1370_P1371del0

c.4108_4113del6

1 paper

NM_000052.7

p.P1371del1

c.4111_4112delCCC

5 papers

NM_000052.7

p.A1373P

c.4117G>C

2 papers

NM_000052.7

p.A1373D

c.4118C>A

3 papers

NM_000052.7

p.A1373V

c.4118C>T

15 papers

NM_000052.7

p.A1362D

c.4085C>A

9 papers

NM_000052.7

p.A1362V

c.4085C>T

2 papers

NM_000052.7

p.G1375Splc

c.4123+1G>A

3 papers

NM_000052.7

p.G1375Splc

c.4123+3A>T

2 papers

NM_000052.7

p.G1375Splc

c.4123+5G>A