Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.H38Q

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.H38Q
c.114T>G
Surrounding Variants
1 paper
NM_207346.3
p.H38Q
c.114T>A
1 paper
NM_207346.3
p.H38delFs
c.112delC
1 paper
NM_207346.3
p.P45A
c.133C>G
1 paper
NM_207346.3
p.D46N
c.136G>A
1 paper
NM_207346.3
p.R59Q
c.176G>A
2 papers
NM_207346.3
p.E60_E72delFs
c.178_215del38
1 paper
NM_207346.3
p.S19Splc
c.57-7C>T
1 paper
NM_207346.3
p.E60A
c.179A>C
1 paper
NM_207346.3
p.E60G
c.179A>G
1 paper
NM_207346.3
p.S19Splc
c.56+1G>T
1 paper
NM_207346.3
p.L74Splc
c.222-2A>T
1 paper
NM_207346.3
p.G75D
c.224G>A
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