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.A20S

c.58G>T

Surrounding Variants

1 paper

NM_003321.5

p.G18V

c.53G>T

2 papers

NM_003321.5

p.G18A

c.53G>C

1 paper

NM_003321.5

p.G18D

c.53G>A

1 paper

NM_003321.5

p.G18C

c.52G>T

1 paper

NM_003321.5

p.G22S

c.64G>A

1 paper

NM_003321.5

p.G22insFs

c.65_66ins4

1 paper

NM_003321.5

p.R23_T24delFs

c.67_70del4

1 paper

NM_003321.5

p.F25L

c.75C>G

1 paper

NM_003321.5

p.F25L

c.75C>A

1 paper

NM_003321.5

p.L26P

c.77T>C

1 paper

NM_003321.5

p.F25_L26delFs

c.75_76delGG

1 paper

NM_003321.5

p.L27P

c.80T>C