Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.Q156_V157Splc

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
4 papers
NM_207346.3
p.Q156_V157Splc
c.468+2T>C
Surrounding Variants
1 paper
NM_207346.3
p.Q142E
c.424C>G
1 paper
NM_207346.3
p.I137T
c.410T>C
1 paper
NM_207346.3
p.I137L
c.409A>C
2 papers
NM_207346.3
p.D132A
c.395A>C
1 paper
NM_207346.3
p.D132N
c.394G>A
2 papers
NM_207346.3
p.G124D
c.371G>A
2 papers
NM_207346.3
p.G124V
c.371G>T
1 paper
NM_207346.3
p.C123_G124Splc
c.370-2A>G
1 paper
NM_207346.3
p.L121L
c.363G>T
3 papers
NM_207346.3
p.Y119D
c.355T>G
1 paper
NM_207346.3
p.P114L
c.341C>T
1 paper
NM_207346.3
p.L112fs
c.334_335fs
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