Varaico: Literature-Extracted Genetic Variants

Gene:NOP2
Variant:p.N315S

NOP2

182 papers

Pfam Domains

RsmF-B_ferredoxaa 280–355UCSCMethyltr_RsmF/B-like, ferredoxin-like domain
RsmF-B_ferredoxaa 280–355UCSCMethyltr_RsmF/B-like, ferredoxin-like domain
Methyltr_RsmB-Faa 377–585UCSC16S rRNA methyltransferase RsmB/F
NOP2_rptaa 623–644UCSCNOP2 repeat
NOP2_rptaa 623–644UCSCNOP2 repeat
NOP2_rptaa 683–705UCSCNOP2 repeat

Gene Aliases

HGNC Name

NOP2 nucleolar protein

HGNC Alias Symbols

NOP120; NSUN1; p120

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001258308.2
p.N315S
c.944A>G
Surrounding Variants
1 paper
NM_001258308.2
p.T314T
c.942C>T
1 paper
NM_001258308.2
p.T319P
c.955A>C
1 paper
NM_001258308.2
p.V310I
c.928G>A
2 papers
NM_001258308.2
p.V306M
c.916G>A
1 paper
NM_001258308.2
p.A325S
c.973G>T
1 paper
NM_001258308.2
p.E299A
c.896A>C
1 paper
NM_001258308.2
p.S262T
c.784T>A
1 paper
NM_001258308.2
p.I249insFs
c.745dupA
1 paper
NM_001258308.2
p.G248R
c.742G>C
1 paper
NM_001258308.2
p.G248R
c.742G>A
1 paper
NM_001258308.2
p.Q237_R238delins
c.711_714delinsATCCCCAGTA
1 paper
NM_001258308.2
p.D230E
c.690T>G
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