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.L266P

c.797T>C

Surrounding Variants

1 paper

NM_001172696.2

p.G283D

c.848G>A

1 paper

NM_005726.6

p.V252I

c.754G>A

5 papers

NM_001172696.2

p.Q307*

c.919C>T

NM_005726.6

p.Q286*

c.856C>T

1 paper

NM_005726.6

p.P287L

c.860C>T

5 papers

NM_001172696.2

p.C261S

c.782G>C

NM_005726.6

p.C240S

c.719G>C

4 papers

NM_001172696.2

p.C261S

c.781T>A

NM_005726.6

p.C240S

c.718T>A

1 paper

NM_005726.6

p.A236D

c.707C>A

1 paper

NM_005726.6

p.A236V

c.707C>T

1 paper

NM_005726.6

p.Y234H

c.700T>C

1 paper

NM_005726.6

p.Q222*

c.664C>T

12 papers

NM_005726.6

p.R312W

c.934C>T

NM_001172696.2

p.R333W

c.997C>T

1 paper

NM_005726.6

p.A220T

c.658G>A