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.V549L

c.1645G>T

Surrounding Variants

1 paper

NM_002453.3

p.V549L

c.1645G>C

4 papers

NM_002453.3

p.V556I

c.1666G>A

1 paper

NM_002453.3

p.G522D

c.1565G>A

1 paper

NM_002453.3

p.R509S

c.1527G>T

1 paper

NM_002453.3

p.R509S

c.1527G>C

1 paper

NM_002453.3

p.I501I

c.1503A>C

1 paper

NM_002453.3

p.E479K

c.1435G>A

1 paper

NM_002453.3

p.R447K

c.1340G>A

1 paper

NM_002453.3

p.E409D

c.1227G>T

1 paper

NM_002453.3

p.E409D

c.1227G>C

1 paper

NM_002453.3

p.R397H

c.1190G>A

1 paper

NM_002453.3

p.R397C

c.1189C>T