Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.R128L

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.R128L
c.383G>T
Surrounding Variants
1 paper
NM_138422.4
p.P119L
c.356C>T
1 paper
NM_138422.4
p.V142M
c.424G>A
33 papers
NM_138422.4
p.V144M
c.430G>A
NM_001329533.2
p.V128M
c.382G>A
1 paper
NM_138422.4
p.A146V
c.437C>T
1 paper
NM_138422.4
p.E107K
c.319G>A
1 paper
NM_138422.4
p.T151_W162del12
c.451_485del36
1 paper
NM_138422.4
p.H104L
c.311A>T
1 paper
NM_138422.4
p.R98R
c.294C>A
1 paper
NM_138422.4
p.S97R
c.291C>A
1 paper
NM_138422.4
p.P96S
c.286C>T
1 paper
NM_138422.4
p.R95L
c.284G>T
1 paper
NM_138422.4
p.W162*
c.485G>A
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