Varaico: Literature-Extracted Genetic Variants

Gene:QTMAN
Variant:p.D120V

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
1 paper
NM_001376312.2
p.D120V
c.359A>T
Surrounding Variants
1 paper
NM_001376312.2
p.C116Splc
c.348-1G>T
1 paper
NM_001376312.2
p.M137T
c.410T>C
3 papers
NM_001376312.2
p.M137I
c.411G>T
2 papers
NM_001376312.2
p.M137I
c.411G>C
2 papers
NM_001376312.2
p.M137I
c.411G>A
1 paper
NM_001376312.2
p.Y164*
c.492C>G
1 paper
NM_001376312.2
p.Y164*
c.492C>A
1 paper
NM_001376312.2
p.Q107*
c.319C>T
2 papers
NM_001376312.2
p.Q102*
c.304C>T
1 paper
NM_001376312.2
p.Q93R
c.278A>G
1 paper
NM_001376312.2
p.S66*
c.197C>G
1 paper
NM_001376312.2
p.S66*
c.197C>A
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