Varaico: Literature-Extracted Genetic Variants

Gene:NOP56
Variant:p.S273F

NOP56

95 papers

RefSeq Summary

Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rR...

Pfam Domains

NOP5NTaa 5–70UCSCNOP5NT (NUC127) domain
Nopaa 174–407UCSCsnoRNA binding domain, fibrillarin

Gene Aliases

HGNC Name

NOP56 ribonucleoprotein

HGNC Previous Symbol

NOL5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006392.4
p.S273F
c.818C>T
Surrounding Variants
1 paper
NM_006392.4
p.V271E
c.812T>A
1 paper
NM_006392.4
p.E276_Y277delFs
c.828_831del4
1 paper
NM_006392.4
p.Q279*
c.835C>T
1 paper
NM_006392.4
p.D260H
c.778G>C
1 paper
NM_006392.4
p.V292I
c.874G>A
1 paper
NM_006392.4
p.S295N
c.884G>A
2 papers
NM_006392.4
p.S297L
c.890C>T
1 paper
NM_006392.4
p.A303A
c.909G>A
1 paper
NM_006392.4
p.R249L
c.746G>T
1 paper
NM_006392.4
p.S248delFs
c.744delA
1 paper
NM_006392.4
p.Q215*
c.643C>T
2 papers
NM_006392.4
p.T209I
c.626C>T
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