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.R334W

c.1000C>T

Surrounding Variants

1 paper

NM_003321.5

p.R334Q

c.1001G>A

1 paper

NM_003321.5

p.R330_L332delFs

c.989_996del8

1 paper

NM_003321.5

p.D336N

c.1006G>A

1 paper

NM_003321.5

p.R330Q

c.989G>A

1 paper

NM_003321.5

p.R338L

c.1013G>T

1 paper

NM_003321.5

p.R339L

c.1016G>T

13 papers

NM_003321.5

p.R339Q

c.1016G>A

2 papers

NM_003321.5

p.A327P

c.979G>C

1 paper

NM_003321.5

p.L325L

c.975C>A

1 paper

NM_003321.5

p.V342delFs

c.1026delG

1 paper

NM_003321.5

p.N324S

c.971A>G

6 papers

NM_003321.5

p.G322R

c.964G>C