Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.S17_H18insFs

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
3 papers
NM_004364.5
p.S17_H18insFs
c.50_53dup4
Surrounding Variants
2 papers
NM_004364.5
p.H18Q
c.54C>G
8 papers
NM_004364.5
p.H18fs
c.52_53fs
2 papers
NM_004364.5
p.H18Q
c.54C>A
1 paper
NM_004364.5
p.S17_H18delFs
c.50_53del4
2 papers
NM_004364.5
p.H18delFs
c.53_54delGT
1 paper
NM_004364.5
p.H18L
c.53A>T
1 paper
NM_004364.5
p.H18insFs
c.52dupC
1 paper
NM_004364.5
p.H18insFs
c.52_53ins4
1 paper
NM_004364.5
p.S16_H18delFs
c.48_52del5
1 paper
NM_004364.5
p.L19Q
c.56T>A
1 paper
NM_004364.5
p.H18_L19delFs
c.52_55del4
1 paper
NM_004364.5
p.M15_L19Fs
c.45_56delinsCCFs
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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."