Varaico: Literature-Extracted Genetic Variants

Gene:ATOX1
Variant:p.H4Q

ATOX1

26 papers

RefSeq Summary

This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the c...

Pfam Domains

HMAaa 5–61UCSCHeavy-metal-associated domain

Gene Aliases

HGNC Name

antioxidant 1 copper chaperone

HGNC Alias Symbol

HAH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004045.4
p.H4Q
c.12C>G
Surrounding Variants
1 paper
NM_004045.4
p.H4Q
c.12C>A
1 paper
NM_004045.4
p.K3_H4insFs
c.9_10insGT
1 paper
NM_004045.4
p.K3E
c.7A>G
1 paper
NM_004045.4
p.M10I
c.30G>T
1 paper
NM_004045.4
p.M10I
c.30G>C
1 paper
NM_004045.4
p.M10I
c.30G>A
1 paper
NM_004045.4
p.T11S
c.31A>T
1 paper
NM_004045.4
p.T11A
c.31A>G
1 paper
NM_004045.4
p.T11S
c.32C>G
1 paper
NM_004045.4
p.T11insFs
c.32dupC
2 papers
NM_004045.4
p.C12G
c.34T>G
1 paper
NM_004045.4
p.C12S
c.34T>A
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