Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.Q274*

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
4 papers
NM_138422.4
p.Q274*
c.820C>T
Surrounding Variants
1 paper
NM_138422.4
p.Q274fs
c.820_821fs
2 papers
NM_138422.4
p.Q274insFs
c.820dupC
1 paper
NM_138422.4
p.A272fs
c.814_815fs
1 paper
NM_138422.4
p.A270V
c.809C>T
1 paper
NM_138422.4
p.F267F
c.801C>T
1 paper
NM_138422.4
p.R282C
c.844C>T
1 paper
NM_138422.4
p.D287A
c.860A>C
1 paper
NM_138422.4
p.Y257Y
c.771C>T
1 paper
NM_138422.4
p.T296T
c.888T>C
1 paper
NM_138422.4
p.V302A
c.905T>C
1 paper
NM_138422.4
p.C244*
c.732C>A
1 paper
NM_138422.4
p.C244Y
c.731G>A
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