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.Q209*

c.625C>T

Surrounding Variants

1 paper

NM_021927.3

p.Q209K

c.625C>A

1 paper

NM_021927.3

p.V213L

c.637G>T

1 paper

NM_021927.3

p.I196M

c.588A>G

1 paper

NM_021927.3

p.K223N

c.669G>C

1 paper

NM_021927.3

p.K223N

c.669G>T

1 paper

NM_021927.3

p.Q186*

c.556C>T

3 papers

NM_021927.3

p.Q172E

c.514C>G

1 paper

NM_021927.3

p.S156F

c.467C>T

3 papers

NM_021927.3

p.S148I

c.443G>T

1 paper

NM_021927.3

p.I139T

c.416T>C

1 paper

NM_021927.3

p.I139L

c.415A>C

1 paper

NM_021927.3

p.I139_D140delFs

c.415_419del5