Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3

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
1–12 of 65 variants
32 papers
NM_138422.4
p.V144M
c.430G>A
8 papers
NM_138422.4
p.A196V
c.587C>T
6 papers
NM_138422.4
p.G33_E36insFs
c.99_106dup8
6 papers
NM_138422.4
p.A196delins
c.586_587delinsTT
5 papers
NM_138422.4
p.E36fs
c.106_107fs
4 papers
NM_138422.4
p.Q274*
c.820C>T
2 papers
NM_138422.4
p.K69E
c.205A>G
2 papers
NM_138422.4
p.A196Fs
c.586_587delinsTTTFs
2 papers
NM_138422.4
p.Q274insFs
c.820dupC
1 paper
NM_138422.4
p.S5C
c.14C>G
1 paper
NM_138422.4
p.P10T
c.28C>A
1 paper
NM_138422.4
p.P21fs
c.61_62fs
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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."