Varaico: Literature-Extracted Genetic Variants

TSEN2

72 papers

RefSeq Summary

This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been as...

Pfam Domains

tRNA_int_endo_Naa 274–329UCSCtRNA intron endonuclease, N-terminal domain

tRNA_int_endoaa 339–430UCSCtRNA intron endonuclease, catalytic C-terminal domain

Gene Aliases

HGNC Name

tRNA splicing endonuclease subunit 2

HGNC Alias Symbols

SEN2; SEN2L; MGC2776

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

13 papers

NM_025265.4

p.Y309C

c.926A>G

3 papers

NM_025265.4

p.Q118fs

c.352_353fs

3 papers

NM_025265.4

p.G312R

c.934G>C

2 papers

NM_025265.4

p.Q118delFs

c.353_354delAG

2 papers

NM_025265.4

p.R126H

c.377G>A

2 papers

NM_025265.4

p.G184delFs

c.552delT

2 papers

NM_025265.4

p.G312R

c.934G>A

1 paper

NM_025265.4

p.K12delFs

c.35delA

1 paper

NM_025265.4

p.P24delFs

c.72delA

1 paper

NM_025265.4

p.K38delFs

c.112delA

1 paper

NM_025265.4

p.I39M

c.117A>G

1 paper

NM_025265.4

p.N47_N48del1

c.141_143delCAA