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

1–12 of 283 variants

13 papers

NM_003321.5

p.R339Q

c.1016G>A

6 papers

NM_003321.5

p.L147H

c.440T>A

6 papers

NM_003321.5

p.G322R

c.964G>C

6 papers

NM_003321.5

p.G322R

c.964G>A

4 papers

NM_003321.5

p.M1V

c.1A>G

4 papers

NM_003321.5

p.M1T

c.2T>C

4 papers

NM_003321.5

p.Y54*

c.162C>G

4 papers

NM_003321.5

p.Y54*

c.162C>A

4 papers

NM_003321.5

p.Y54delFs

c.162delG

4 papers

NM_003321.5

p.H115P

c.344A>C

4 papers

NM_003321.5

p.H352N

c.1054C>A

3 papers

NM_003321.5

p.T3A

c.7A>G