Varaico: Literature-Extracted Genetic Variants

Gene:TRUB2
Variant:p.K126_D127Splc

TRUB2

19 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 84–233UCSCTruB family pseudouridylate synthase (N terminal domain)

Gene Aliases

HGNC Name

TruB pseudouridine synthase family member 2

HGNC Alias Symbol

CLONE24922

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015679.3
p.K126_D127Splc
c.379-5T>G
Surrounding Variants
1 paper
NM_015679.3
p.D144Y
c.430G>T
1 paper
NM_015679.3
p.G112E
c.335G>A
1 paper
NM_015679.3
p.E159V
c.476A>T
1 paper
NM_015679.3
p.V167I
c.499G>A
1 paper
NM_015679.3
p.E191Q
c.571G>C
1 paper
NM_015679.3
p.P205S
c.613C>T
1 paper
NM_015679.3
p.R212*
c.634C>T
1 paper
NM_015679.3
p.S309N
c.926G>A
2 papers
NM_015679.3
p.L323F
c.969G>T
2 papers
NM_015679.3
p.L323F
c.969G>C
1 paper
NM_015679.3
p.I76M
c.228C>G
1 paper
NM_015679.3
p.A45fs
c.133_134fs
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