Varaico: Literature-Extracted Genetic Variants

Gene:NOP56
Variant:p.R342K

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.R342K
c.1025G>A
Surrounding Variants
1 paper
NM_006392.4
p.I351L
c.1051A>C
1 paper
NM_006392.4
p.H353H
c.1059C>T
1 paper
NM_006392.4
p.T355del1
c.1063_1064delACC
1 paper
NM_006392.4
p.K375T
c.1124A>C
1 paper
NM_006392.4
p.I378F
c.1132A>T
1 paper
NM_006392.4
p.A379S
c.1135G>T
1 paper
NM_006392.4
p.L335L
c.1003C>T
1 paper
NM_006392.4
p.R398*
c.1192C>T
1 paper
NM_006392.4
p.E402_E403Fs
c.1205_1207delinsAFs
1 paper
NM_006392.4
p.R404*
c.1210C>T
1 paper
NM_006392.4
p.E409D
c.1227G>C
1 paper
NM_006392.4
p.E409D
c.1227G>T
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