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.A36V

c.107C>T

Surrounding Variants

1 paper

NM_003321.5

p.A36P

c.106G>C

1 paper

NM_003321.5

p.P37R

c.110C>G

1 paper

NM_003321.5

p.K35E

c.103A>G

1 paper

NM_003321.5

p.A38T

c.112G>A

1 paper

NM_003321.5

p.A38V

c.113C>T

1 paper

NM_003321.5

p.L34V

c.100C>G

1 paper

NM_003321.5

p.G22_L33del12

c.64_98del36

1 paper

NM_003321.5

p.R32_L33delFs

c.96_97delGC

1 paper

NM_003321.5

p.P40L

c.119C>T

2 papers

NM_003321.5

p.L31L

c.93G>A

1 paper

NM_003321.5

p.L41V

c.121C>G

1 paper

NM_003321.5

p.L30Q

c.89T>A