Varaico: Literature-Extracted Genetic Variants

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

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.D681G

c.2042A>G

Surrounding Variants

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.C711fs

c.2131_2132fs

1 paper

NM_002453.3

p.C711_Y712delFs

c.2131_2134del4

1 paper

NM_002453.3

p.K720fs

c.2158_2159fs

1 paper

NM_002453.3

p.K720Fs

c.2158_2160delinsGFs

3 papers

NM_002453.3

p.F659C

c.1976T>G

1 paper

NM_002453.3

p.R647G

c.1939A>G

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.R601C

c.1801C>T

1 paper

NM_002453.3

p.V581A

c.1742T>C