Varaico: Literature-Extracted Genetic Variants

Gene:BRIX1
Variant:p.K53_G54Splc

BRIX1

36 papers

Pfam Domains

Brixaa 67–242UCSCBrix domain

Gene Aliases

HGNC Name

biogenesis of ribosomes BRX1

HGNC Previous Symbol

BXDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018321.4
p.K53_G54Splc
c.159+2T>G
Surrounding Variants
1 paper
NM_018321.4
p.E38D
c.114G>C
1 paper
NM_018321.4
p.E38D
c.114G>T
1 paper
NM_018321.4
p.P19S
c.55C>T
1 paper
NM_018321.4
p.A16V
c.47C>T
1 paper
NM_018321.4
p.Q15*
c.43C>T
1 paper
NM_018321.4
p.V14I
c.40G>A
1 paper
NM_018321.4
p.G10A
c.29G>C
1 paper
NM_018321.4
p.M1insFs
c.1_2insA
1 paper
NM_018321.4
p.R61W
c.181C>T
1 paper
NM_018321.4
p.K99N
c.297G>C
1 paper
NM_018321.4
p.K99N
c.297G>T
1 paper
NM_018321.4
p.Y117C
c.350A>G
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