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.C624_Y625insFs

c.1872_1873ins38

Surrounding Variants

1 paper

NM_021927.3

p.C624_Y625Splc

c.1873-1G>A

1 paper

NM_021927.3

p.R631Q

c.1892G>A

1 paper

NM_021927.3

p.K643delFs

c.1927delA

2 papers

NM_021927.3

p.K643fs

c.1927_1928fs

1 paper

NM_021927.3

p.K645fs

c.1933_1934fs

1 paper

NM_021927.3

p.N651K

c.1953C>A

1 paper

NM_021927.3

p.N651K

c.1953C>G

1 paper

NM_021927.3

p.V652I

c.1954G>A

2 papers

NM_021927.3

p.A609S

c.1825G>T

1 paper

NM_021927.3

p.Q600E

c.1798C>G

1 paper

NM_021927.3

p.I582T

c.1745T>C

1 paper

NM_021927.3

p.D573N

c.1717G>A