Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.A95A

TSEN54

148 papers

RefSeq Summary

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. M...

Pfam Domains

tRNA_int_end_N2aa 63–130UCSCtRNA-splicing endonuclease subunit sen54 N-term

Gene Aliases

HGNC Name

tRNA splicing endonuclease subunit 54

HGNC Alias Symbols

SEN54; SEN54L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_207346.3
p.A95A
c.285G>C
Surrounding Variants
10 papers
NM_207346.3
p.S93P
c.277T>C
3 papers
NM_207346.3
p.E85V
c.254A>T
1 paper
NM_207346.3
p.A80S
c.238G>T
1 paper
NM_207346.3
p.G75D
c.224G>A
1 paper
NM_207346.3
p.L74Splc
c.222-2A>T
1 paper
NM_207346.3
p.R109G
c.325C>G
1 paper
NM_207346.3
p.L112fs
c.334_335fs
1 paper
NM_207346.3
p.P114L
c.341C>T
3 papers
NM_207346.3
p.Y119D
c.355T>G
1 paper
NM_207346.3
p.L121L
c.363G>T
1 paper
NM_207346.3
p.E60A
c.179A>C
1 paper
NM_207346.3
p.E60G
c.179A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."