Varaico: Literature-Extracted Genetic Variants

Gene:NOP2
Variant:p.Q446*

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.Q446*
c.1336C>T
Surrounding Variants
1 paper
NM_001258308.2
p.S440_Q446delFs
c.1320_1336del17
1 paper
NM_001258308.2
p.R431Q
c.1292G>A
1 paper
NM_001258308.2
p.N428_L429delFs
c.1284_1287del4
1 paper
NM_001258308.2
p.A417V
c.1250C>T
1 paper
NM_001258308.2
p.V468delFs
c.1404delG
1 paper
NM_001258308.2
p.V475V
c.1425G>A
1 paper
NM_001258308.2
p.L494fs
c.1480_1481fs
1 paper
NM_001258308.2
p.L494_L495delFs
c.1481_1485del5
1 paper
NM_001258308.2
p.S497I
c.1490G>T
1 paper
NM_001258308.2
p.T505A
c.1513A>G
1 paper
NM_001258308.2
p.N524S
c.1571A>G
1 paper
NM_001258308.2
p.V527fs
c.1579_1580fs
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