Varaico: Literature-Extracted Genetic Variants

Gene:QTRT1
Variant:p.V294L

QTRT1

211 papers

RefSeq Summary

This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizin...

Pfam Domains

TGTaa 23–382UCSCQueuine tRNA-ribosyltransferase

Gene Aliases

HGNC Name

queuine tRNA-ribosyltransferase catalytic subunit 1

HGNC Alias Symbol

TGT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_031209.3
p.V294L
c.880G>C
Surrounding Variants
1 paper
NM_031209.3
p.L293L
c.877C>T
1 paper
NM_031209.3
p.P295P
c.885C>A
1 paper
NM_031209.3
p.A292_L293del1
c.876_878delCCT
1 paper
NM_031209.3
p.S291F
c.872C>T
1 paper
NM_031209.3
p.P312P
c.936C>T
1 paper
NM_031209.3
p.P320H
c.959C>A
1 paper
NM_031209.3
p.Q323R
c.968A>G
1 paper
NM_031209.3
p.A287V
c.860C>T
1 paper
NM_031209.3
p.C280Y
c.839G>A
1 paper
NM_031209.3
p.S326C
c.976A>T
1 paper
NM_031209.3
p.D276D
c.828C>T
1 paper
NM_031209.3
p.C275F
c.824G>T
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