Varaico: Literature-Extracted Genetic Variants

Gene:MTIF2
Variant:p.R601C

MTIF2

53 papers

RefSeq Summary

During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is...

Pfam Domains

GTP_EFTUaa 179–344UCSCElongation factor Tu GTP binding domain
GTP_EFTUaa 179–344UCSCElongation factor Tu GTP binding domain
EF-G_D2aa 354–434UCSCElongation factor G domain 2
EF-G_D2aa 354–434UCSCElongation factor G domain 2
IF-2aa 495–607UCSCTranslation-initiation factor 2

Gene Aliases

HGNC Name

mitochondrial translational initiation factor 2

HGNC Alias Symbol

IF-2mt

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002453.3
p.R601C
c.1801C>T
Surrounding Variants
1 paper
NM_002453.3
p.V581A
c.1742T>C
4 papers
NM_002453.3
p.V634L
c.1900G>T
4 papers
NM_002453.3
p.V634L
c.1900G>C
1 paper
NM_002453.3
p.R647G
c.1939A>G
3 papers
NM_002453.3
p.F659C
c.1976T>G
4 papers
NM_002453.3
p.V556I
c.1666G>A
1 paper
NM_002453.3
p.V549L
c.1645G>T
1 paper
NM_002453.3
p.V549L
c.1645G>C
1 paper
NM_002453.3
p.G522D
c.1565G>A
1 paper
NM_002453.3
p.K680N
c.2040A>T
1 paper
NM_002453.3
p.K680N
c.2040A>C
1 paper
NM_002453.3
p.D681G
c.2042A>G
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