Varaico: Literature-Extracted Genetic Variants

Gene:TEFM
Variant:p.Y123*

TEFM

30 papers

Pfam Domains

HHH_3aa 76–133UCSCHelix-hairpin-helix motif

Gene Aliases

HGNC Name

transcription elongation factor, mitochondrial

HGNC Previous Symbol

C17orf42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024683.4
p.Y123*
c.369T>G
Surrounding Variants
1 paper
NM_024683.4
p.Y123*
c.369T>A
1 paper
NM_024683.4
p.K137N
c.411G>T
1 paper
NM_024683.4
p.K137N
c.411G>C
1 paper
NM_024683.4
p.F150S
c.449T>C
3 papers
NM_024683.4
p.P157A
c.469C>G
1 paper
NM_024683.4
p.I159K
c.476T>A
1 paper
NM_024683.4
p.R163del1
c.487_488delTCT
1 paper
NM_024683.4
p.E162_R163del0
c.484_489del6
1 paper
NM_024683.4
p.Q69*
c.205C>T
1 paper
NM_024683.4
p.R34W
c.100C>T
1 paper
NM_024683.4
p.C32W
c.96C>G
1 paper
NM_024683.4
p.T18S
c.53C>G
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