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.R5_L7del3

c.13_20del9

Surrounding Variants

1 paper

NM_005726.6

p.L3insFs

c.9dupG

1 paper

NM_005726.6

p.S2*

c.5C>A

1 paper

NM_005726.6

p.S2L

c.5C>T

1 paper

NM_005726.6

p.L4insFs

c.12dupG

1 paper

NM_005726.6

p.S2insFs

c.5dupC

1 paper

NM_005726.6

p.S2_L3del1

c.5_7delCGC

1 paper

NM_005726.6

p.S2insFs

c.4dupT

1 paper

NM_005726.6

p.S2_T15ins4

c.4_45dup42

1 paper

NM_005726.6

p.M1insFs

c.3dupG

1 paper

NM_005726.6

p.M1insFs

c.2dupT

1 paper

NM_005726.6

p.M1insFs

c.2_3dupTG

1 paper

NM_005726.6

p.M1_S2ins0

c.2_4dupTGT