Varaico: Literature-Extracted Genetic Variants

Gene:QTRT1
Variant:p.L250V

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
1 paper
NM_031209.3
p.L250V
c.748C>G
Surrounding Variants
1 paper
NM_031209.3
p.P255L
c.764C>T
1 paper
NM_031209.3
p.R256*
c.766C>T
1 paper
NM_031209.3
p.A244S
c.730G>T
1 paper
NM_031209.3
p.R256Q
c.767G>A
1 paper
NM_031209.3
p.R241L
c.722G>T
1 paper
NM_031209.3
p.W240*
c.719G>A
1 paper
NM_031209.3
p.S237L
c.710C>T
2 papers
NM_031209.3
p.G233D
c.698G>A
1 paper
NM_031209.3
p.G233C
c.697G>T
1 paper
NM_031209.3
p.G232W
c.694G>T
1 paper
NM_031209.3
p.G228E
c.683G>A
1 paper
NM_031209.3
p.G228A
c.683G>C
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