Varaico: Literature-Extracted Genetic Variants

Gene:TFB2M
Variant:p.R340Splc

TFB2M

57 papers

Pfam Domains

RrnaADaa 71–379UCSCRibosomal RNA adenine dimethylase

Gene Aliases

HGNC Name

transcription factor B2, mitochondrial

HGNC Alias Symbols

FLJ23182; FLJ22661; Hkp1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022366.3
p.R340Splc
c.1019+7A>G
Surrounding Variants
1 paper
NM_022366.3
p.R340H
c.1019G>A
1 paper
NM_022366.3
p.R331C
c.991C>T
2 papers
NM_022366.3
p.F328F
c.984T>C
1 paper
NM_022366.3
p.M315V
c.943A>G
1 paper
NM_022366.3
p.R304C
c.910C>T
1 paper
NM_022366.3
p.R340H
c.1019G>A
1 paper
NM_022366.3
p.A347V
c.1040C>T
1 paper
NM_022366.3
p.L351S
c.1052T>C
1 paper
NM_022366.3
p.I354M
c.1062A>G
1 paper
NM_022366.3
p.R379C
c.1135C>T
2 papers
NM_022366.3
p.T392T
c.1176C>T
6 papers
NM_022366.3
p.H264Y
c.790C>T
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