Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.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
1 paper
NM_004364.5
p.H18insFs
c.52_53ins4
Surrounding Variants
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.S16_H18delFs
c.48_52del5
2 papers
NM_004364.5
p.H18Q
c.54C>G
1 paper
NM_004364.5
p.S17insFs
c.49_50ins4
8 papers
NM_004364.5
p.H18fs
c.52_53fs
3 papers
NM_004364.5
p.S17_H18insFs
c.50_53dup4
2 papers
NM_004364.5
p.H18Q
c.54C>A
3 papers
NM_004364.5
p.H18fs
c.52_53fs
1 paper
NM_004364.5
p.S17_H18delFs
c.50_53del4
1 paper
NM_004364.5
p.S17R
c.51C>G
4 papers
NM_004364.5
p.S17fs
c.49_50fs
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