Varaico: Literature-Extracted Genetic Variants

TSFM

91 papers

RefSeq Summary

This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the ...

Pfam Domains

EF-Ts_Naa 35–92UCSCElongation factor Ts, mitochondrial, N-terminal

EF_TSaa 124–274UCSCElongation factor TS

Gene Aliases

HGNC Name

Ts translation elongation factor, mitochondrial

HGNC Alias Symbols

EF-Tsmt; EF-TS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005726.6

p.T57I

c.170C>T

Surrounding Variants

1 paper

NM_005726.6

p.G58V

c.173G>T

1 paper

NM_005726.6

p.R54Q

c.161G>A

1 paper

NM_005726.6

p.V62I

c.184G>A

1 paper

NM_005726.6

p.T33S

c.97A>T

1 paper

NM_005726.6

p.R31R

c.93G>A

2 papers

NM_005726.6

p.P19_A20Splc

c.57+4A>G

1 paper

NM_005726.6

p.P19P

c.57G>A

1 paper

NM_005726.6

p.G16E

c.47G>A

1 paper

NM_005726.6

p.T15insFs

c.45dupC

1 paper

NM_005726.6

p.V12L

c.34G>C

1 paper

NM_005726.6

p.L11L

c.33G>A

1 paper

NM_005726.6

p.L11V

c.31C>G