Varaico: Literature-Extracted Genetic Variants

Gene:ATOX1

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
1–12 of 35 variants
3 papers
NM_004045.4
p.H4Q
c.12C>G
2 papers
NM_004045.4
p.C12G
c.34T>G
2 papers
NM_004045.4
p.G14S
c.40G>A
2 papers
NM_004045.4
p.C15G
c.43T>G
2 papers
NM_004045.4
p.R21W
c.61C>T
2 papers
NM_004045.4
p.I33I
c.99T>C
1 paper
NM_004045.4
p.P2L
c.5C>T
1 paper
NM_004045.4
p.P2_K3Splc
c.6+30G>A
1 paper
NM_004045.4
p.K3E
c.7A>G
1 paper
NM_004045.4
p.K3_H4insFs
c.9_10insGT
1 paper
NM_004045.4
p.H4Q
c.12C>A
1 paper
NM_004045.4
p.M10I
c.30G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."