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.L1409Splc

c.4226+1G>A

Surrounding Variants

1 paper

NM_000052.7

p.L1409Splc

c.4226+2T>C

1 paper

NM_000052.7

p.K1408T

c.4223A>C

1 paper

NM_000052.7

p.L1409Splc

c.4226+5G>A

5 papers

NM_000052.7

p.K1408*

c.4222A>T

2 papers

NM_000052.7

p.L1409Splc

c.4226+6T>C

1 paper

NM_000052.7

p.L1407I

c.4219C>A

1 paper

NM_000052.7

p.L1409Splc

c.4226+11T>C

1 paper

NM_000052.7

p.L1405V

c.4213C>G

1 paper

NM_000052.7

p.S1403Y

c.4208C>A

1 paper

NM_000052.7

p.V1401L

c.4201G>C

1 paper

NM_000052.7

p.V1401L

c.4201G>T

1 paper

NM_000052.7

p.V1400delFs

c.4198_4199delGT