Varaico: Literature-Extracted Genetic Variants

Gene:BOP1
Variant:p.Q103E

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
1 paper
NM_015201.5
p.Q103E
c.307C>G
Surrounding Variants
1 paper
NM_015201.5
p.Q103_A104Splc
c.309+1G>A
1 paper
NM_015201.5
p.S71T
c.212G>C
1 paper
NM_015201.5
p.E57D
c.171A>T
1 paper
NM_015201.5
p.E57E
c.171A>G
1 paper
NM_015201.5
p.E57D
c.171A>C
1 paper
NM_015201.5
p.S53C
c.158C>G
1 paper
NM_015201.5
p.V52I
c.154G>A
1 paper
NM_015201.5
p.L36V
c.106C>G
1 paper
NM_015201.5
p.S22Y
c.65C>A
1 paper
NM_015201.5
p.A2V
c.5C>T
1 paper
NM_015201.5
p.M1_A2insFs
c.3_4insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."