Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.S190_H191ins2

CEBPA

897 papers

RefSeq Summary

This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in...

Pfam Domains

bZIP_2aa 281–334UCSCBasic region leucine zipper
bZIP_2aa 281–334UCSCBasic region leucine zipper

Gene Aliases

HGNC Name

CCAAT enhancer binding protein alpha

HGNC Previous Symbol

CEBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
34 papers
NM_004364.5
p.S190_H191ins2
c.570_571ins6
Surrounding Variants
2 papers
NM_004364.5
p.H193_P197ins1
c.578_589dup12
1 paper
NM_004364.5
p.P197Q
c.590C>A
7 papers
NM_004364.5
p.H193_P194del2
c.577_581del6
1 paper
NM_004364.5
p.H193_P197del0
c.578_589del12
1 paper
NM_004364.5
p.H191_P197del0
c.572_589del18
5 papers
NM_004364.5
p.P197insFs
c.589dupC
1 paper
NM_004364.5
p.P197_P198ins2
c.591_592ins6
1 paper
NM_004364.5
p.H195_P197ins1
c.585_590dup6
1 paper
NM_004364.5
p.Y181_P197insFs
c.543_589dup47
1 paper
NM_004364.5
p.P197fs
c.589_590fs
1 paper
NM_004364.5
p.P197fs
c.589_590fs
2 papers
NM_004364.5
p.P197S
c.589C>T
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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."