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

1–12 of 78 variants

3 papers

NM_021927.3

p.L58P

c.173T>C

3 papers

NM_021927.3

p.S148I

c.443G>T

3 papers

NM_021927.3

p.Q172E

c.514C>G

3 papers

NM_021927.3

p.L417Q

c.1250T>A

2 papers

NM_021927.3

p.R112Q

c.335G>A

2 papers

NM_021927.3

p.P245Splc

c.734+1G>A

2 papers

NM_021927.3

p.R250C

c.748C>T

2 papers

NM_021927.3

p.E468delFs

c.1402_1403delGA

2 papers

NM_021927.3

p.E468fs

c.1402_1403fs

2 papers

NM_021927.3

p.N519D

c.1555A>G

2 papers

NM_021927.3

p.A609S

c.1825G>T

2 papers

NM_021927.3

p.K643fs

c.1927_1928fs