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.G90S

c.268G>A

Surrounding Variants

2 papers

NM_005726.6

p.G90D

c.269G>A

3 papers

NM_005726.6

p.W91G

c.271T>G

1 paper

NM_005726.6

p.K88N

c.264G>C

1 paper

NM_005726.6

p.K103_E104insFs

c.309_310insC

1 paper

NM_005726.6

p.Q111_N114delFs

c.331_340del10

1 paper

NM_005726.6

p.G113A

c.338G>C

3 papers

NM_005726.6

p.V119L

c.355G>C

2 papers

NM_005726.6

p.V119L

c.355G>T

1 paper

NM_005726.6

p.L136_L137delFs

c.408_409delGT

1 paper

NM_005726.6

p.L137fs

c.409_410fs

1 paper

NM_005726.6

p.Q140P

c.419A>C

1 paper

NM_005726.6

p.M147I

c.441G>A