Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.K212N

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.K212N
c.636G>T
Surrounding Variants
1 paper
NM_207346.3
p.K212N
c.636G>C
1 paper
NM_207346.3
p.P231S
c.691C>T
1 paper
NM_207346.3
p.C240R
c.718T>C
1 paper
NM_207346.3
p.C240Y
c.719G>A
5 papers
NM_207346.3
p.Q246*
c.736C>T
1 paper
NM_207346.3
p.S267S
c.801C>T
1 paper
NM_207346.3
p.R272insFs
c.815dupG
1 paper
NM_207346.3
p.R272fs
c.814_815fs
1 paper
NM_207346.3
p.V275delFs
c.823delG
1 paper
NM_207346.3
p.V275fs
c.823_824fs
1 paper
NM_207346.3
p.S205C
c.614C>G
1 paper
NM_207346.3
p.S204N
c.611G>A
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