Varaico: Literature-Extracted Genetic Variants

GFM1

253 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 44–319UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 366–432UCSCElongation factor Tu domain 2

EFG_IIIaa 446–520UCSCElongation Factor G, domain III

EFG_IVaa 521–642UCSCElongation factor G, domain IV

EFG_Caa 644–731UCSCElongation factor G C-terminus

Gene Aliases

HGNC Name

G elongation factor mitochondrial 1

HGNC Alias Symbols

EFGM; EGF1; mtEF-G1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_024996.7

p.M496R

c.1487T>G

Surrounding Variants

1 paper

NM_024996.7

p.I493R

c.1478T>G

1 paper

NM_024996.7

p.E490K

c.1468G>A

1 paper

NM_024996.7

p.R475I

c.1424G>T

2 papers

NM_024996.7

p.F473V

c.1417T>G

7 papers

NM_024996.7

p.G469fs

c.1405_1406fs

11 papers

NM_024996.7

p.K468delFs

c.1404delA

1 paper

NM_024996.7

p.D462G

c.1385A>G

1 paper

NM_024996.7

p.D462Y

c.1384G>T

1 paper

NM_024996.7

p.R507S

c.1521G>C

1 paper

NM_024996.7

p.R507S

c.1521G>T

1 paper

NM_024996.7

p.E509G

c.1526A>G

2 papers

NM_024996.7

p.C516R

c.1546T>C