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

2 papers

NM_000052.7

p.I1024K

c.3071T>A

Surrounding Variants

1 paper

NM_000052.7

p.I1024M

c.3072A>G

2 papers

NM_000052.7

p.I1026delFs

c.3076delA

2 papers

NM_000052.7

p.G1023_L1032del0

c.3067_3096del30

1 paper

NM_000052.7

p.K1027_G1028insT

c.3079_3083ins3

2 papers

NM_000052.7

p.A1020delFs

c.3060delT

1 paper

NM_000052.7

p.A1020S

c.3058G>T

8 papers

NM_000052.7

p.G1019D

c.3056G>A

1 paper

NM_000052.7

p.E1030K

c.3088G>A

1 paper

NM_000052.7

p.L1032del1

c.3094_3095delTTG

1 paper

NM_000052.7

p.L1032_E1033del2

c.3094_3098del6

1 paper

NM_000052.7

p.E1033K

c.3097G>A

3 papers

NM_000052.7

p.G1015D

c.3044G>A