Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P43S

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.P43S
c.127C>T
Surrounding Variants
1 paper
NM_004364.5
p.P42insFs
c.125dupC
1 paper
NM_004364.5
p.Q41_P42insFs
c.122_125dup4
1 paper
NM_004364.5
p.P42fs
c.124_125fs
1 paper
NM_004364.5
p.P43insFs
c.128_129ins7
1 paper
NM_004364.5
p.G38_P43delFs
c.112_127del16
4 papers
NM_004364.5
p.P43fs
c.127_128fs
1 paper
NM_004364.5
p.P42insFs
c.125_126ins4
1 paper
NM_004364.5
p.A37_P42delFs
c.111_124del14
2 papers
NM_004364.5
p.A37_P42delFs
c.109_124del16
1 paper
NM_004364.5
p.A29_P42delFs
c.85_124del40
1 paper
NM_004364.5
p.A44S
c.130G>T
2 papers
NM_004364.5
p.A44insFs
c.130_131insAG
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