Varaico: Literature-Extracted Genetic Variants

Gene:QTMAN
Variant:p.S318C

QTMAN

39 papers

Pfam Domains

QTMAN_Naa 2–167UCSCtRNA-queuosine alpha-mannosyltransferase N-terminal
QTMAN_Naa 2–167UCSCtRNA-queuosine alpha-mannosyltransferase N-terminal
Glycos_transf_1aa 172–317UCSCGlycosyl transferases group 1
Glycos_transf_1aa 280–432UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

queuosine-tRNA mannosyltransferase

HGNC Previous Symbol

GTDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001376312.2
p.S318C
c.953C>G
Surrounding Variants
2 papers
NM_001376312.2
p.D329Splc
c.985+1G>A
1 paper
NM_001376312.2
p.V304V
c.912A>T
1 paper
NM_001376312.2
p.E299K
c.895G>A
1 paper
NM_001376312.2
p.D297N
c.889G>A
1 paper
NM_001376312.2
p.W292*
c.876G>A
1 paper
NM_001376312.2
p.W292*
c.875G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."