Varaico: Literature-Extracted Genetic Variants

Gene:ATOX1
Variant:p.T61T

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
1 paper
NM_004045.4
p.T61T
c.183T>G
Surrounding Variants
1 paper
NM_004045.4
p.Y64F
c.191A>T
1 paper
NM_004045.4
p.D49E
c.147C>G
1 paper
NM_004045.4
p.D49V
c.146A>T
1 paper
NM_004045.4
p.M48I
c.144G>A
1 paper
NM_004045.4
p.E43K
c.127G>A
1 paper
NM_004045.4
p.C41R
c.121T>C
1 paper
NM_004045.4
p.V40V
c.120C>A
1 paper
NM_004045.4
p.K39N
c.117G>C
1 paper
NM_004045.4
p.N37N
c.111C>T
2 papers
NM_004045.4
p.I33I
c.99T>C
1 paper
NM_004045.4
p.K30E
c.88A>G
1 paper
NM_004045.4
p.G28Splc
c.82+5G>A
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