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.G67_D70del4

c.199_209del12

Surrounding Variants

2 papers

NM_003321.5

p.D70delFs

c.210delG

1 paper

NM_003321.5

p.D70G

c.209A>G

1 paper

NM_003321.5

p.D70N

c.208G>A

1 paper

NM_003321.5

p.T74S

c.220A>T

1 paper

NM_003321.5

p.G67R

c.199G>C

1 paper

NM_003321.5

p.L76Q

c.227T>A

1 paper

NM_003321.5

p.L76_T77insFs

c.228_229insA

1 paper

NM_003321.5

p.L76L

c.228G>A

1 paper

NM_003321.5

p.T65_I66ins4

c.193_197ins12

1 paper

NM_003321.5

p.G64insFs

c.190dupG

1 paper

NM_003321.5

p.T75_L76del2

c.223_227del6

1 paper

NM_003321.5

p.G64A

c.191G>C