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

1 paper

NM_003321.5

p.R107W

c.319C>T

Surrounding Variants

1 paper

NM_003321.5

p.R105_A106delFs

c.315_318del4

1 paper

NM_003321.5

p.G108S

c.322G>A

1 paper

NM_003321.5

p.R105R

c.315A>T

1 paper

NM_003321.5

p.E104D

c.312G>C

1 paper

NM_003321.5

p.A101V

c.302C>T

1 paper

NM_003321.5

p.N100D

c.298A>G

4 papers

NM_003321.5

p.H115P

c.344A>C

1 paper

NM_003321.5

p.V116M

c.346G>A

1 paper

NM_003321.5

p.E96_E97del2

c.286_290del6

1 paper

NM_003321.5

p.E97E

c.291G>A

1 paper

NM_003321.5

p.V116V

c.348G>C

1 paper

NM_003321.5

p.V116delFs

c.347delA