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.P146S

c.436C>T

Surrounding Variants

6 papers

NM_003321.5

p.L147H

c.440T>A

1 paper

NM_003321.5

p.D148G

c.443A>G

1 paper

NM_003321.5

p.T142I

c.425C>T

1 paper

NM_003321.5

p.A145_C150del0

c.435_449del15

1 paper

NM_003321.5

p.G149_C150del1

c.446_448delAGC

1 paper

NM_003321.5

p.C150_L152del0

c.448_456del9

1 paper

NM_003321.5

p.V153A

c.458T>C

1 paper

NM_003321.5

p.A156V

c.467C>T

1 paper

NM_003321.5

p.N157S

c.470A>G

1 paper

NM_003321.5

p.D158N

c.472G>A

1 paper

NM_003321.5

p.D158G

c.473A>G

1 paper

NM_003321.5

p.D158A

c.473A>C