Varaico: Literature-Extracted Genetic Variants

Gene:NOP56
Variant:p.E409D

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.E409D
c.1227G>C
Surrounding Variants
1 paper
NM_006392.4
p.E409D
c.1227G>T
1 paper
NM_006392.4
p.R404*
c.1210C>T
1 paper
NM_006392.4
p.E402_E403Fs
c.1205_1207delinsAFs
1 paper
NM_006392.4
p.D419V
c.1256A>T
1 paper
NM_006392.4
p.R398*
c.1192C>T
1 paper
NM_006392.4
p.A428insFs
c.1284dupA
1 paper
NM_006392.4
p.A428_E429delFs
c.1284_1285delAG
1 paper
NM_006392.4
p.E430delFs
c.1289delA
1 paper
NM_006392.4
p.A431V
c.1292C>T
1 paper
NM_006392.4
p.E443_K444insFs
c.1329_1330insA
1 paper
NM_006392.4
p.R446H
c.1337G>A
1 paper
NM_006392.4
p.K452T
c.1355A>C
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