Varaico: Literature-Extracted Genetic Variants

Gene:TRUB1

TRUB1

35 papers

RefSeq Summary

Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OM...

Pfam Domains

TruB_Naa 106–255UCSCTruB family pseudouridylate synthase (N terminal domain)

Gene Aliases

HGNC Name

TruB pseudouridine synthase family member 1

HGNC Alias Symbol

PUS4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
4 papers
NM_139169.5
p.E103A
c.308A>C
4 papers
NM_139169.5
p.R167K
c.500G>A
2 papers
NM_139169.5
p.A2V
c.5C>T
1 paper
NM_139169.5
p.A7V
c.20C>T
1 paper
NM_139169.5
p.V8M
c.22G>A
1 paper
NM_139169.5
p.S10C
c.29C>G
1 paper
NM_139169.5
p.L22L
c.66T>A
1 paper
NM_139169.5
p.G26fs
c.76_77fs
1 paper
NM_139169.5
p.G26_T34delFs
c.77_102del26
1 paper
NM_139169.5
p.M31R
c.92T>G
1 paper
NM_139169.5
p.M31I
c.93G>A
1 paper
NM_139169.5
p.M31I
c.93G>C
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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."