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.R56S

c.166C>A

Surrounding Variants

1 paper

NM_003321.5

p.R56H

c.167G>A

4 papers

NM_003321.5

p.Y54delFs

c.162delG

4 papers

NM_003321.5

p.Y54*

c.162C>G

4 papers

NM_003321.5

p.Y54*

c.162C>A

2 papers

NM_003321.5

p.Y54C

c.161A>G

1 paper

NM_003321.5

p.P59T

c.175C>A

1 paper

NM_003321.5

p.P59L

c.176C>T

1 paper

NM_003321.5

p.V61L

c.181G>T

1 paper

NM_003321.5

p.V61L

c.181G>C

1 paper

NM_003321.5

p.K51E

c.151A>G

1 paper

NM_003321.5

p.V61A

c.182T>C

1 paper

NM_003321.5

p.A50A

c.150C>T