Varaico: Literature-Extracted Genetic Variants

Gene:NOP58
Variant:p.I254I

NOP58

56 papers

RefSeq Summary

The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded...

Pfam Domains

NOP5NTaa 2–66UCSCNOP5NT (NUC127) domain
Nopaa 168–397UCSCsnoRNA binding domain, fibrillarin

Gene Aliases

HGNC Name

NOP58 ribonucleoprotein

HGNC Alias Symbol

HSPC120

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015934.5
p.I254I
c.762T>C
Surrounding Variants
1 paper
NM_015934.5
p.I251_I254del4
c.751_761del12
1 paper
NM_015934.5
p.Q260*
c.778C>T
1 paper
NM_015934.5
p.E228A
c.683A>C
2 papers
NM_015934.5
p.C205C
c.615C>T
1 paper
NM_015934.5
p.I180T
c.539T>C
1 paper
NM_015934.5
p.E175*
c.523G>T
1 paper
NM_015934.5
p.L172L
c.516G>A
1 paper
NM_015934.5
p.D170G
c.509A>G
1 paper
NM_015934.5
p.Q276_N277delFs
c.828_831del4
1 paper
NM_015934.5
p.A283P
c.847G>C
1 paper
NM_015934.5
p.E292K
c.874G>A
1 paper
NM_015934.5
p.R150T
c.449G>C
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