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.D527E

c.1581C>A

Surrounding Variants

1 paper

NM_021927.3

p.D527E

c.1581C>G

2 papers

NM_021927.3

p.N519D

c.1555A>G

1 paper

NM_021927.3

p.V510G

c.1529T>G

1 paper

NM_021927.3

p.N508S

c.1523A>G

1 paper

NM_021927.3

p.E493K

c.1477G>A

2 papers

NM_021927.3

p.E468fs

c.1402_1403fs

2 papers

NM_021927.3

p.E468delFs

c.1402_1403delGA

1 paper

NM_021927.3

p.I454M

c.1362T>G

1 paper

NM_021927.3

p.S441fs

c.1321_1322fs

1 paper

NM_021927.3

p.Y434*

c.1302T>A

1 paper

NM_021927.3

p.Y434*

c.1302T>G

1 paper

NM_021927.3

p.E418K

c.1252G>A