Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.A307S

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
72 papers
NM_207346.3
p.A307S
c.919G>T
Surrounding Variants
1 paper
NM_207346.3
p.A307T
c.919G>A
1 paper
NM_207346.3
p.M306V
c.916A>G
1 paper
NM_207346.3
p.S308delFs
c.923delC
2 papers
NM_207346.3
p.P318delFs
c.953delC
1 paper
NM_207346.3
p.P318fs
c.952_953fs
2 papers
NM_207346.3
p.P318Q
c.953C>A
1 paper
NM_207346.3
p.P320R
c.959C>G
1 paper
NM_207346.3
p.G290*
c.868G>T
1 paper
NM_207346.3
p.A325delFs
c.973delG
1 paper
NM_207346.3
p.A325fs
c.973_974fs
1 paper
NM_207346.3
p.D333E
c.999C>A
1 paper
NM_207346.3
p.D333E
c.999C>G
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