Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P196_P197insHP

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
5 papers
NM_004364.5
p.P196_P197insHP
c.586_590ins6
Surrounding Variants
1 paper
NM_004364.5
p.P196A
c.586C>G
6 papers
NM_004364.5
p.P196_P197insG
c.586_590ins3
1 paper
NM_004364.5
p.P196_P197ins4
c.586_590ins12
1 paper
NM_004364.5
p.P196L
c.587C>T
1 paper
NM_004364.5
p.H195fs
c.583_584fs
2 papers
NM_004364.5
p.P196insFs
c.586_587insC
1 paper
NM_004364.5
p.P196insFs
c.587_588insCC
1 paper
NM_004364.5
p.P196fs
c.586_587fs
1 paper
NM_004364.5
p.P194ins0
c.580_582dupCCG
1 paper
NM_004364.5
p.H195ins2
c.583_584ins6
1 paper
NM_004364.5
p.P197fs
c.589_590fs
2 papers
NM_004364.5
p.P197S
c.589C>T
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