Varaico: Literature-Extracted Genetic Variants

Gene:NOP56
Variant:p.M475T

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
4 papers
NM_006392.4
p.M475T
c.1424T>C
Surrounding Variants
1 paper
NM_006392.4
p.M475I
c.1425G>A
1 paper
NM_006392.4
p.M475I
c.1425G>C
1 paper
NM_006392.4
p.M475I
c.1425G>T
1 paper
NM_006392.4
p.K480Q
c.1438A>C
1 paper
NM_006392.4
p.P491H
c.1472C>A
1 paper
NM_006392.4
p.S511Y
c.1532C>A
1 paper
NM_006392.4
p.L517W
c.1550T>G
1 paper
NM_006392.4
p.D521H
c.1561G>C
1 paper
NM_006392.4
p.E549K
c.1645G>A
3 papers
NM_006392.4
p.V576A
c.1727T>C
2 papers
NM_006392.4
p.K584_K585del1
c.1752_1754delGAA
1 paper
NM_006392.4
p.K586del1
c.1756_1757delAAG
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