Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.P37fs

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.P37fs
c.109_110fs
Surrounding Variants
1 paper
NM_138422.4
p.E36insFs
c.107dupA
5 papers
NM_138422.4
p.E36fs
c.106_107fs
1 paper
NM_138422.4
p.A32G
c.95C>G
6 papers
NM_138422.4
p.G33_E36insFs
c.99_106dup8
1 paper
NM_138422.4
p.K51_G54del0
c.151_162del12
1 paper
NM_138422.4
p.P21fs
c.61_62fs
1 paper
NM_138422.4
p.A61S
c.181G>T
1 paper
NM_138422.4
p.P10T
c.28C>A
1 paper
NM_138422.4
p.S5C
c.14C>G
2 papers
NM_138422.4
p.K69E
c.205A>G
1 paper
NM_138422.4
p.S73insFs
c.219dupA
1 paper
NM_138422.4
p.S80L
c.239C>T
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