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.D158G

c.473A>G

Surrounding Variants

1 paper

NM_003321.5

p.D158A

c.473A>C

1 paper

NM_003321.5

p.D158N

c.472G>A

1 paper

NM_003321.5

p.G159C

c.475G>T

1 paper

NM_003321.5

p.G159A

c.476G>C

1 paper

NM_003321.5

p.N157S

c.470A>G

1 paper

NM_003321.5

p.P160S

c.478C>T

1 paper

NM_003321.5

p.P160T

c.478C>A

1 paper

NM_003321.5

p.A156V

c.467C>T

1 paper

NM_003321.5

p.M161delFs

c.483delC

1 paper

NM_003321.5

p.M161_P162del1

c.482_484delGCA

1 paper

NM_003321.5

p.V153A

c.458T>C

1 paper

NM_003321.5

p.C150_L152del0

c.448_456del9