Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.W401*

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
1 paper
NM_207346.3
p.W401*
c.1202G>A
Surrounding Variants
1 paper
NM_207346.3
p.W401*
c.1203G>A
1 paper
NM_207346.3
p.V390V
c.1170G>A
2 papers
NM_207346.3
p.V390_R395delFs
c.1170_1183del14
1 paper
NM_207346.3
p.Q389P
c.1166A>C
1 paper
NM_207346.3
p.R387L
c.1160G>T
3 papers
NM_207346.3
p.P417P
c.1251A>G
1 paper
NM_207346.3
p.A418Splc
c.1252+1G>T
1 paper
NM_207346.3
p.E380*
c.1138G>T
3 papers
NM_207346.3
p.V372M
c.1114G>A
1 paper
NM_207346.3
p.E371K
c.1111G>A
1 paper
NM_207346.3
p.R353G
c.1057C>G
2 papers
NM_207346.3
p.E352_R353delFs
c.1056_1057delAC
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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."