Varaico: Literature-Extracted Genetic Variants

Gene:TEFM
Variant:p.I348V

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
3 papers
NM_024683.4
p.I348V
c.1042A>G
Surrounding Variants
1 paper
NM_024683.4
p.F350L
c.1048T>C
1 paper
NM_024683.4
p.F350L
c.1050C>G
1 paper
NM_024683.4
p.F350L
c.1050C>A
1 paper
NM_024683.4
p.F303L
c.909T>G
1 paper
NM_024683.4
p.F303L
c.909T>A
1 paper
NM_024683.4
p.F303L
c.907T>C
1 paper
NM_024683.4
p.E298Q
c.892G>C
1 paper
NM_024683.4
p.Y258Fs
c.774delinsGCTGTAFs
1 paper
NM_024683.4
p.A255T
c.763G>A
1 paper
NM_024683.4
p.L248fs
c.742_743fs
1 paper
NM_024683.4
p.T234delFs
c.700delT
1 paper
NM_024683.4
p.T234fs
c.700_701fs
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