Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.Y24*

NHP2

110 papers

RefSeq Summary

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into t...

Pfam Domains

Ribosomal_L7Aeaa 45–139UCSCRibosomal protein L7Ae/L30e/S12e/Gadd45 family

Gene Aliases

HGNC Name

NHP2 ribonucleoprotein

HGNC Previous Symbol

NOLA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017838.4
p.Y24*
c.72C>G
Surrounding Variants
5 papers
NM_017838.4
p.Y24N
c.70T>A
1 paper
NM_017838.4
p.L28V
c.82C>G
1 paper
NM_017838.4
p.L28R
c.83T>G
4 papers
NM_017838.4
p.G20R
c.58G>A
1 paper
NM_017838.4
p.C18_S19delFs
c.54_57del4
1 paper
NM_017838.4
p.Q31E
c.91C>G
1 paper
NM_017838.4
p.Q31K
c.91C>A
1 paper
NM_017838.4
p.A17V
c.50C>T
1 paper
NM_017838.4
p.N32delFs
c.95_96delGT
1 paper
NM_017838.4
p.P37S
c.109C>T
1 paper
NM_017838.4
p.P37R
c.110C>G
1 paper
NM_017838.4
p.P37_L38delFs
c.110_113del4
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