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.M1_S2ins0

c.2_4dupTGT

Surrounding Variants

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_L4insFs

c.2_12dup11

1 paper

NM_005726.6

p.M1L

c.1A>C

2 papers

NM_005726.6

p.M1V

c.1A>G

1 paper

NM_005726.6

p.M1L

c.1A>T

1 paper

NM_005726.6

p.M1_S2del1

c.2_4delTGT

1 paper

NM_005726.6

p.S2_L4del3

c.4_11del9

1 paper

NM_005726.6

p.M1insFs

c.1dupA

1 paper

NM_005726.6

p.M1insFs

c.1_2dupAT

1 paper

NM_005726.6

p.M1_S2insFs

c.1_5dup5

1 paper

NM_005726.6

p.M1delFs

c.1delA