Varaico: Literature-Extracted Genetic Variants

Gene:BRIX1
Variant:p.L329V

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.L329V
c.985T>G
Surrounding Variants
1 paper
NM_018321.4
p.R335W
c.1003C>T
1 paper
NM_018321.4
p.R278T
c.833G>C
2 papers
NM_018321.4
p.A275T
c.823G>A
1 paper
NM_018321.4
p.I272I
c.816C>A
1 paper
NM_018321.4
p.R267C
c.799C>T
1 paper
NM_018321.4
p.G250G
c.750A>G
1 paper
NM_018321.4
p.L240P
c.719T>C
1 paper
NM_018321.4
p.L238_N239delFs
c.714_715delAA
1 paper
NM_018321.4
p.L238fs
c.712_713fs
1 paper
NM_018321.4
p.L229V
c.685C>G
1 paper
NM_018321.4
p.Q221_I222Splc
c.663+2T>A
1 paper
NM_018321.4
p.R218Q
c.653G>A
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