Varaico: Literature-Extracted Genetic Variants

Gene:QTRT1
Variant:p.L386H

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.L386H
c.1157T>A
Surrounding Variants
1 paper
NM_031209.3
p.T385I
c.1154C>T
1 paper
NM_031209.3
p.P388S
c.1162C>T
1 paper
NM_031209.3
p.W390insFs
c.1168_1169insC
1 paper
NM_031209.3
p.R374Q
c.1121G>A
1 paper
NM_031209.3
p.L402L
c.1206G>T
1 paper
NM_031209.3
p.V360F
c.1078G>T
1 paper
NM_031209.3
p.Q355insFs
c.1063_1064insA
2 papers
NM_031209.3
p.A341V
c.1022C>T
2 papers
NM_031209.3
p.D337V
c.1010A>T
1 paper
NM_031209.3
p.S326C
c.976A>T
1 paper
NM_031209.3
p.Q323R
c.968A>G
1 paper
NM_031209.3
p.P320H
c.959C>A
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