Varaico: Literature-Extracted Genetic Variants

Gene:MTERF1
Variant:p.Y17C

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
1 paper
NM_006980.5
p.Y17C
c.50A>G
Surrounding Variants
1 paper
NM_006980.5
p.N16N
c.48C>T
1 paper
NM_006980.5
p.N16H
c.46A>C
1 paper
NM_006980.5
p.S45L
c.134C>T
1 paper
NM_006980.5
p.F50L
c.148T>C
1 paper
NM_006980.5
p.F50L
c.150C>G
1 paper
NM_006980.5
p.F50L
c.150C>A
1 paper
NM_006980.5
p.T65I
c.194C>T
1 paper
NM_006980.5
p.D74_L75insFs
c.222_223insA
1 paper
NM_006980.5
p.N78I
c.233A>T
1 paper
NM_006980.5
p.L79*
c.236T>G
1 paper
NM_006980.5
p.L79*
c.236T>A
1 paper
NM_006980.5
p.T81I
c.242C>T
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