Varaico: Literature-Extracted Genetic Variants

Gene:BOP1
Variant:p.R417W

BOP1

29 papers

Pfam Domains

BOP1NTaa 144–402UCSCBOP1NT (NUC169) domain
WD40aa 403–441UCSCWD domain, G-beta repeat
WD40aa 610–648UCSCWD domain, G-beta repeat
WD40aa 653–690UCSCWD domain, G-beta repeat
WD40aa 704–746UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

BOP1 ribosomal biogenesis factor

HGNC Alias Symbol

KIAA0124

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015201.5
p.R417W
c.1249C>T
Surrounding Variants
1 paper
NM_015201.5
p.G357R
c.1069G>C
1 paper
NM_015201.5
p.G357R
c.1069G>A
1 paper
NM_015201.5
p.G544R
c.1630G>A
1 paper
NM_015201.5
p.Q572E
c.1714C>G
1 paper
NM_015201.5
p.V724I
c.2170G>A
1 paper
NM_015201.5
p.D739D
c.2217C>T
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