Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.R61P

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
3 papers
NM_017838.4
p.R61P
c.182G>C
Surrounding Variants
1 paper
NM_017838.4
p.R61Q
c.182G>A
1 paper
NM_017838.4
p.Q59P
c.176A>C
1 paper
NM_017838.4
p.G63G
c.189G>T
1 paper
NM_017838.4
p.V64M
c.190G>A
1 paper
NM_017838.4
p.E66fs
c.196_197fs
1 paper
NM_017838.4
p.E66delFs
c.197_198delCT
1 paper
NM_017838.4
p.Q68R
c.203A>G
1 paper
NM_017838.4
p.E75_K76delFs
c.224_227del4
1 paper
NM_017838.4
p.A54Splc
c.160+8G>A
1 paper
NM_017838.4
p.I51M
c.153C>G
2 papers
NM_017838.4
p.L47L
c.141C>G
1 paper
NM_017838.4
p.K46N
c.138G>T
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