Varaico: Literature-Extracted Genetic Variants

Gene:BLZF1

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
1–12 of 51 variants
6 papers
NM_001320973.2
p.Q40R
c.119A>G
2 papers
NM_001320973.2
p.R216*
c.646C>T
2 papers
NM_001320973.2
p.R258H
c.773G>A
1 paper
NM_001320973.2
p.K9insFs
c.27dupA
1 paper
NM_001320973.2
p.S37C
c.110C>G
1 paper
NM_001320973.2
p.H44insFs
c.132dupT
1 paper
NM_001320973.2
p.H45R
c.134A>G
1 paper
NM_001320973.2
p.W51C
c.153G>C
1 paper
NM_001320973.2
p.K52N
c.156G>C
1 paper
NM_001320973.2
p.K52N
c.156G>T
1 paper
NM_001320973.2
p.G61E
c.182G>A
1 paper
NM_001320973.2
p.E75Q
c.223G>C
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