Varaico: Literature-Extracted Genetic Variants

TUFM

393 papers

RefSeq Summary

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lacti...

Pfam Domains

GTP_EFTUaa 58–252UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 275–344UCSCElongation factor Tu domain 2

GTP_EFTU_D3aa 348–443UCSCElongation factor Tu C-terminal domain

Gene Aliases

HGNC Name

Tu translation elongation factor, mitochondrial

HGNC Alias Symbols

EFTu; EF-TuMT; EFTU

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003321.5

p.T3A

c.7A>G

Surrounding Variants

1 paper

NM_003321.5

p.T3S

c.7A>T

1 paper

NM_003321.5

p.T3Fs

c.7delinsTGGGTAGGGFs

1 paper

NM_003321.5

p.M4L

c.10A>T

1 paper

NM_003321.5

p.M4V

c.10A>G

1 paper

NM_003321.5

p.M1insFs

c.3dupG

2 papers

NM_003321.5

p.M1I

c.3G>T

1 paper

NM_003321.5

p.M1I

c.3G>C

1 paper

NM_003321.5

p.M1I

c.3G>A

4 papers

NM_003321.5

p.M1T

c.2T>C

2 papers

NM_003321.5

p.A5T

c.13G>A

4 papers

NM_003321.5

p.M1V

c.1A>G

1 paper

NM_003321.5

p.A5G

c.14C>G