Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.T226I

ADAT3

84 papers

RefSeq Summary

This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characteriz...

Pfam Domains

dCMP_cyt_deam_1aa 170–310UCSCCytidine and deoxycytidylate deaminase zinc-binding region

Gene Aliases

HGNC Name

adenosine deaminase tRNA specific 3

HGNC Alias Symbol

TAD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138422.4
p.T226I
c.677C>T
Surrounding Variants
1 paper
NM_138422.4
p.A219V
c.656C>T
1 paper
NM_138422.4
p.A233V
c.698C>T
1 paper
NM_138422.4
p.C244Y
c.731G>A
1 paper
NM_138422.4
p.C244*
c.732C>A
8 papers
NM_138422.4
p.A196V
c.587C>T
6 papers
NM_138422.4
p.A196delins
c.586_587delinsTT
2 papers
NM_138422.4
p.A196Fs
c.586_587delinsTTTFs
1 paper
NM_138422.4
p.A196fs
c.586_587fs
1 paper
NM_138422.4
p.Y257Y
c.771C>T
1 paper
NM_138422.4
p.A196delFs
c.586delG
1 paper
NM_138422.4
p.M189I
c.567G>A
1 paper
NM_138422.4
p.F267F
c.801C>T
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