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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRUB1

Variant:p.L155P

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:114959748 T>C

NM_139169.5

p.L155P

c.464T>C

TruB_N

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

Surrounding Variants

1 paper

chr10:114959739 T>C

NM_139169.5

p.I152T

c.455T>C

TruB_N

Exome: 2.0% (AC=29337, hom=376)Genome: 1.5% (AC=2286, hom=25)13 overlapping SVs

1 paper

chr10:114959778 C>T

NM_139169.5

p.T165M

c.494C>T

TruB_N

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

4 papers

chr10:114959784 G>A

NM_139169.5

p.R167K

c.500G>A

TruB_N

Exome: 44.6% (AC=644705, hom=151147)Genome: 51.1% (AC=77659, hom=22028)13 overlapping SVs

1 paper

chr10:114959807 G>T

NM_139169.5

p.D175Y

c.523G>T

TruB_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr10:114959893 A>G

NM_139169.5

p.D175Splc

c.523+86A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr10:114956905 A>G

NM_139169.5

p.K147_R148Splc

c.442-2821A>G

exact variant not in gnomAD13 overlapping SVs

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