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.T13T

c.39G>A

Surrounding Variants

1 paper

NM_003321.5

p.P14S

c.40C>T

1 paper

NM_003321.5

p.T13S

c.37A>T

1 paper

NM_003321.5

p.A12A

c.36G>A

1 paper

NM_003321.5

p.A12P

c.34G>C

1 paper

NM_003321.5

p.A12T

c.34G>A

2 papers

NM_003321.5

p.H15H

c.45C>T

1 paper

NM_003321.5

p.R11P

c.32G>C

1 paper

NM_003321.5

p.L10L

c.30G>A

1 paper

NM_003321.5

p.L10insFs

c.29_30insC

1 paper

NM_003321.5

p.G18S

c.52G>A

1 paper

NM_003321.5

p.T8A

c.22A>G

2 papers

NM_003321.5

p.A7G

c.20C>G