Varaico: Literature-Extracted Genetic Variants

GUF1

71 papers

RefSeq Summary

This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in ot...

Pfam Domains

GTP_EFTUaa 66–245UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 268–338UCSCElongation factor Tu domain 2

EFG_Caa 468–557UCSCElongation factor G C-terminus

LepA_Caa 558–664UCSCGTP-binding protein LepA C-terminus

Gene Aliases

HGNC Name

GTP binding elongation factor GUF1

HGNC Alias Symbol

FLJ13220

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021927.3

p.V318E

c.953T>A

Surrounding Variants

1 paper

NM_021927.3

p.Y320H

c.958T>C

1 paper

NM_021927.3

p.V328L

c.982G>C

1 paper

NM_021927.3

p.I333V

c.997A>G

1 paper

NM_021927.3

p.T310A

c.928A>G

1 paper

NM_021927.3

p.S385I

c.1154G>T

1 paper

NM_021927.3

p.K293fs

c.877_878fs

1 paper

NM_021927.3

p.K293delFs

c.877_878delAA

1 paper

NM_021927.3

p.S288C

c.863C>G

1 paper

NM_021927.3

p.S288delFs

c.864delT

1 paper

NM_021927.3

p.V280L

c.838G>C

1 paper

NM_021927.3

p.R250H

c.749G>A

2 papers

NM_021927.3

p.R250C

c.748C>T