Varaico: Literature-Extracted Genetic Variants

Gene:MTERF1
Variant:p.A294T

MTERF1

35 papers

RefSeq Summary

This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expre...

Pfam Domains

mTERFaa 56–369UCSCmTERF

Gene Aliases

HGNC Name

mitochondrial transcription termination factor 1

HGNC Previous Name

mitochondrial transcription termination factor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006980.5
p.A294T
c.880G>A
Surrounding Variants
1 paper
NM_006980.5
p.S248G
c.742A>G
1 paper
NM_006980.5
p.F243delFs
c.729delA
1 paper
NM_006980.5
p.E347*
c.1039G>T
1 paper
NM_006980.5
p.S355N
c.1064G>A
1 paper
NM_006980.5
p.R362Q
c.1085G>A
1 paper
NM_006980.5
p.L208_V215del0
c.624_644del21
1 paper
NM_006980.5
p.L380F
c.1138C>T
1 paper
NM_006980.5
p.R202insFs
c.604_605insG
1 paper
NM_006980.5
p.R190H
c.569G>A
1 paper
NM_006980.5
p.G187insFs
c.559_560insC
1 paper
NM_006980.5
p.Y184C
c.551A>G
1 paper
NM_006980.5
p.T151A
c.451A>G
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