Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.S27Fs

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.S27Fs
c.79_80delinsCFs
Surrounding Variants
1 paper
NM_004364.5
p.S27insFs
c.79dupA
2 papers
NM_004364.5
p.S27fs
c.79_80fs
1 paper
NM_004364.5
p.S27insFs
c.79_80insCC
2 papers
NM_004364.5
p.P23_P26delFs
c.69_78del10
14 papers
NM_004364.5
p.P23_P26delFs
c.68_78del11
3 papers
NM_004364.5
p.P26fs
c.76_77fs
3 papers
NM_004364.5
p.S28fs
c.82_83fs
1 paper
NM_004364.5
p.S28G
c.82A>G
1 paper
NM_004364.5
p.S28insFs
c.82_83insCT
1 paper
NM_004364.5
p.S27_S28insFs
c.81_82insCC
1 paper
NM_004364.5
p.S27delFs
c.81delG
1 paper
NM_004364.5
p.S28N
c.83G>A
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