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.D129G

c.386A>G

Surrounding Variants

1 paper

NM_003321.5

p.D129A

c.386A>C

1 paper

NM_003321.5

p.D129N

c.385G>A

1 paper

NM_003321.5

p.G132R

c.394G>C

1 paper

NM_003321.5

p.G132V

c.395G>T

1 paper

NM_003321.5

p.G132D

c.395G>A

1 paper

NM_003321.5

p.A126T

c.376G>A

1 paper

NM_003321.5

p.Y125C

c.374A>G

1 paper

NM_003321.5

p.R123H

c.368G>A

1 paper

NM_003321.5

p.K138_N139Splc

c.414+2T>C

1 paper

NM_003321.5

p.G132_K138del7

c.394_413del21

1 paper

NM_003321.5

p.E117K

c.349G>A

1 paper

NM_003321.5

p.V116V

c.348G>C