Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.M97delFs

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.M97delFs
c.289_290delAT
Surrounding Variants
3 papers
NM_017838.4
p.M97T
c.290T>C
2 papers
NM_017838.4
p.M97fs
c.289_290fs
1 paper
NM_017838.4
p.M97V
c.289A>G
1 paper
NM_017838.4
p.P95_V96del2
c.283_287del6
6 papers
NM_017838.4
p.R101Q
c.302G>A
1 paper
NM_017838.4
p.L103M
c.307T>A
1 paper
NM_017838.4
p.L94_N102delFs
c.281_306del26
1 paper
NM_017838.4
p.L103F
c.309G>T
1 paper
NM_017838.4
p.Y91C
c.272A>G
1 paper
NM_017838.4
p.P104L
c.311C>T
2 papers
NM_017838.4
p.E89K
c.265G>A
3 papers
NM_017838.4
p.P87S
c.259C>T
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