Varaico: Literature-Extracted Genetic Variants

Gene:BLZF1
Variant:p.R216*

BLZF1

47 papers

Pfam Domains

DASH_Hsk3aa 181–226UCSCDASH complex subunit Hsk3 like

Gene Aliases

HGNC Name

basic leucine zipper nuclear factor 1

HGNC Alias Symbol

JEM-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001320973.2
p.R216*
c.646C>T
Surrounding Variants
1 paper
NM_001320973.2
p.R216L
c.647G>T
1 paper
NM_001320973.2
p.A221T
c.661G>A
1 paper
NM_001320973.2
p.L205S
c.614T>C
1 paper
NM_001320973.2
p.R196Q
c.587G>A
1 paper
NM_001320973.2
p.L194Q
c.581T>A
1 paper
NM_001320973.2
p.E183K
c.547G>A
1 paper
NM_001320973.2
p.R182C
c.544C>T
1 paper
NM_001320973.2
p.V169_G170insFs
c.507_508insA
1 paper
NM_001320973.2
p.K163N
c.489G>C
1 paper
NM_001320973.2
p.R159C
c.475C>T
1 paper
NM_001320973.2
p.V153I
c.457G>A
1 paper
NM_001320973.2
p.R152H
c.455G>A
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