Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.Y139H

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
11 papers
NM_017838.4
p.Y139H
c.415T>C
Surrounding Variants
1 paper
NM_017838.4
p.C142Y
c.425G>A
1 paper
NM_017838.4
p.H132Y
c.394C>T
13 papers
NM_017838.4
p.V126M
c.376G>A
8 papers
NM_017838.4
p.*154R
c.460T>C
10 papers
NM_017838.4
p.*154R
c.460T>A
4 papers
NM_017838.4
p.A118T
c.352G>A
1 paper
NM_017838.4
p.A116S
c.346G>T
1 paper
NM_017838.4
p.G115A
c.344G>C
1 paper
NM_017838.4
p.S110T
c.328T>A
1 paper
NM_017838.4
p.P109L
c.326C>T
1 paper
NM_017838.4
p.P104L
c.311C>T
1 paper
NM_017838.4
p.L103F
c.309G>T
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