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

1–12 of 92 variants

10 papers

NM_005726.6

p.R312W

c.934C>T

4 papers

NM_005726.6

p.Q286*

c.856C>T

3 papers

NM_005726.6

p.F10F

c.30T>C

3 papers

NM_005726.6

p.W91G

c.271T>G

3 papers

NM_005726.6

p.V119L

c.355G>C

3 papers

NM_005726.6

p.C240S

c.719G>C

3 papers

NM_005726.6

p.C315Y

c.944G>A

2 papers

NM_005726.6

p.M1V

c.1A>G

2 papers

NM_005726.6

p.P19_A20Splc

c.57+4A>G

2 papers

NM_005726.6

p.Q77_A78Splc

c.231+371C>T

2 papers

NM_005726.6

p.G90D

c.269G>A

2 papers

NM_005726.6

p.V119L

c.355G>T