Varaico: Literature-Extracted Genetic Variants

Gene:ADI1
Variant:p.E94A

ADI1

43 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nuc...

Pfam Domains

ARDaa 3–157UCSCARD/ARD' family

Gene Aliases

HGNC Name

acireductone dioxygenase 1

HGNC Alias Symbols

SIPL; MTCBP-1; ARD; APL1; FLJ10913; HMFT1638

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_018269.4
p.E94A
c.281A>C
Surrounding Variants
1 paper
NM_018269.4
p.G103W
c.307G>T
1 paper
NM_018269.4
p.G103A
c.308G>C
1 paper
NM_018269.4
p.D106D
c.318T>C
1 paper
NM_018269.4
p.V107L
c.319G>T
1 paper
NM_018269.4
p.D112G
c.335A>G
1 paper
NM_018269.4
p.R116W
c.346C>T
1 paper
NM_018269.4
p.G122R
c.364G>C
1 paper
NM_018269.4
p.G122R
c.364G>A
1 paper
NM_018269.4
p.M124I
c.372G>T
1 paper
NM_018269.4
p.M124I
c.372G>C
1 paper
NM_018269.4
p.M124I
c.372G>A
1 paper
NM_018269.4
p.T126M
c.377C>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."