Varaico: Literature-Extracted Genetic Variants

Gene:ADI1
Variant:p.T68A

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
2 papers
NM_018269.4
p.T68A
c.202A>G
Surrounding Variants
1 paper
NM_018269.4
p.E53Q
c.157G>C
1 paper
NM_018269.4
p.P50Q
c.149C>A
1 paper
NM_018269.4
p.E47Q
c.139G>C
1 paper
NM_018269.4
p.K40_L41Splc
c.120+1G>C
1 paper
NM_018269.4
p.G35R
c.103G>A
1 paper
NM_018269.4
p.E29A
c.86A>C
1 paper
NM_018269.4
p.G27G
c.81C>T
1 paper
NM_018269.4
p.D13G
c.38A>G
1 paper
NM_018269.4
p.M7L
c.19A>C
1 paper
NM_018269.4
p.M1I
c.3G>C
1 paper
NM_018269.4
p.M1V
c.1A>G
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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."