Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.E11K

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.E11K
c.31G>A
Surrounding Variants
1 paper
NM_207346.3
p.V10E
c.29T>A
1 paper
NM_207346.3
p.E4D
c.12G>C
1 paper
NM_207346.3
p.E4D
c.12G>T
1 paper
NM_207346.3
p.E6_A14del0
c.17_40del24
1 paper
NM_207346.3
p.S19Splc
c.56+1G>T
2 papers
NM_207346.3
p.E2_P3ins6
c.4_8ins18
1 paper
NM_207346.3
p.M1K
c.2T>A
2 papers
NM_207346.3
p.M1ins2
c.2_3ins6
1 paper
NM_207346.3
p.S19Splc
c.57-7C>T
1 paper
NM_207346.3
p.H38delFs
c.112delC
1 paper
NM_207346.3
p.H38Q
c.114T>A
1 paper
NM_207346.3
p.H38Q
c.114T>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."