Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P51_C56delFs

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
2 papers
NM_004364.5
p.P51_C56delFs
c.152_167del16
Surrounding Variants
3 papers
NM_004364.5
p.E57V
c.170A>T
3 papers
NM_004364.5
p.E57*
c.169G>T
1 paper
NM_004364.5
p.C56insFs
c.168dupC
2 papers
NM_004364.5
p.E57fs
c.169_170fs
1 paper
NM_004364.5
p.C56insFs
c.166_167ins13
2 papers
NM_004364.5
p.E57K
c.169G>A
1 paper
NM_004364.5
p.A48_C56delFs
c.144_168del25
1 paper
NM_004364.5
p.C56W
c.168C>G
1 paper
NM_004364.5
p.C56insFs
c.166_167dupTG
4 papers
NM_004364.5
p.C56fs
c.166_167fs
1 paper
NM_004364.5
p.H58N
c.172C>A
1 paper
NM_004364.5
p.C56*
c.168C>A
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