Varaico: Literature-Extracted Genetic Variants

Gene:ADAT3
Variant:p.Y324F

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.Y324F
c.971A>T
Surrounding Variants
1 paper
NM_138422.4
p.A326V
c.977C>T
1 paper
NM_138422.4
p.R321H
c.962G>A
1 paper
NM_138422.4
p.D330N
c.988G>A
1 paper
NM_138422.4
p.L314L
c.940C>T
1 paper
NM_138422.4
p.R338_H340ins1
c.1013_1018dup6
1 paper
NM_138422.4
p.A311T
c.931G>A
1 paper
NM_138422.4
p.H340L
c.1019A>T
1 paper
NM_138422.4
p.V302A
c.905T>C
1 paper
NM_138422.4
p.T296T
c.888T>C
1 paper
NM_138422.4
p.R361G
c.1081C>G
1 paper
NM_138422.4
p.D287A
c.860A>C
1 paper
NM_138422.4
p.W362*
c.1085G>A
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