Varaico: Literature-Extracted Genetic Variants

GFM2

67 papers

RefSeq Summary

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in thi...

Pfam Domains

GTP_EFTUaa 68–351UCSCElongation factor Tu GTP binding domain

EF-G_D2aa 366–450UCSCElongation factor G domain 2

EFG_IIIaa 485–559UCSCElongation Factor G, domain III

EFG_IVaa 560–682UCSCElongation factor G, domain IV

EFG_Caa 684–771UCSCElongation factor G C-terminus

Gene Aliases

HGNC Name

GTP dependent ribosome recycling factor mitochondrial 2

HGNC Alias Symbols

EFG2; FLJ21661; EF-G2mt

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_032380.5

p.G50fs

c.148_149fs

Surrounding Variants

1 paper

NM_032380.5

p.G50A

c.149G>C

1 paper

NM_032380.5

p.G50G

c.150C>A

1 paper

NM_032380.5

p.H60D

c.178C>G

1 paper

NM_032380.5

p.N64S

c.191A>G

1 paper

NM_032380.5

p.N64del1

c.190_191delATT

1 paper

NM_032380.5

p.K69I

c.206A>T

2 papers

NM_032380.5

p.K69Splc

c.206+4A>G

1 paper

NM_032380.5

p.R71H

c.212G>A

1 paper

NM_032380.5

p.A81G

c.242C>G

1 paper

NM_032380.5

p.G82A

c.245G>C

1 paper

NM_032380.5

p.T85I

c.254C>T

2 papers

NM_032380.5

p.Y92S

c.275A>C