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
1 paper
NM_004364.5
p.S190_H191ins2
c.570_571ins6
Surrounding Variants
1 paper
NM_004364.5
p.P189_S190del1
c.567_569delGAG
1 paper
NM_004364.5
p.S190_H191ins1
c.570_571insGAG
1 paper
NM_004364.5
p.H191ins1
c.571_572insAGA
4 papers
NM_004364.5
p.S190*
c.569C>A
1 paper
NM_004364.5
p.P188_S190delFs
c.564_568del5
1 paper
NM_004364.5
p.S190_H191delins
c.568_572delinsCTGCAGAA
1 paper
NM_001285829.2
p.P70insFs
c.208dupC
2 papers
NM_004364.5
p.S190ins2
c.568_569ins6
11 papers
NM_004364.5
p.S190P
c.568T>C
12 papers
NM_004364.5
p.P189del1
c.565_566delGGG
1 paper
NM_004364.5
p.P188_P189del2
c.562_566del6
1 paper
NM_004364.5
p.P186_P189del4
c.556_566del12
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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."