Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.H58N

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.H58N
c.172C>A
Surrounding Variants
2 papers
NM_004364.5
p.E57fs
c.169_170fs
1 paper
NM_004364.5
p.C56insFs
c.166_167ins13
1 paper
NM_004364.5
p.H58insFs
c.173_174insCC
2 papers
NM_004364.5
p.H58insFs
c.173dupA
3 papers
NM_004364.5
p.E57V
c.170A>T
2 papers
NM_004364.5
p.P51_C56delFs
c.152_167del16
20 papers
NM_004364.5
p.E59*
c.175G>T
3 papers
NM_004364.5
p.E57*
c.169G>T
1 paper
NM_004364.5
p.E59Fs
c.175delinsCTFs
1 paper
NM_004364.5
p.C56insFs
c.168dupC
1 paper
NM_004364.5
p.E59Q
c.175G>C
2 papers
NM_004364.5
p.E57K
c.169G>A
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