Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P194ins0

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
1 paper
NM_004364.5
p.P194ins0
c.580_582dupCCG
Surrounding Variants
1 paper
NM_004364.5
p.H195ins2
c.583_584ins6
2 papers
NM_004364.5
p.H195Y
c.583C>T
1 paper
NM_004364.5
p.H195fs
c.583_584fs
2 papers
NM_004364.5
p.P194_H195ins1
c.582_583insAAG
1 paper
NM_001285829.2
p.P75fs
c.223_224fs
1 paper
NM_001285829.2
p.P75delFs
c.224delG
1 paper
NM_004364.5
p.P196A
c.586C>G
6 papers
NM_004364.5
p.P196_P197insG
c.586_590ins3
5 papers
NM_004364.5
p.P196_P197insHP
c.586_590ins6
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.P194L
c.581C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."