Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P51fs

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.P51fs
c.151_152fs
Surrounding Variants
6 papers
NM_004364.5
p.E50fs
c.148_149fs
1 paper
NM_004364.5
p.P51L
c.152C>T
1 paper
NM_004364.5
p.P51insFs
c.151_152ins4
3 papers
NM_004364.5
p.P51fs
c.151_152fs
3 papers
NM_004364.5
p.P51delFs
c.152delG
1 paper
NM_004364.5
p.E50G
c.149A>G
1 paper
NM_004364.5
p.E50insFs
c.148dupG
1 paper
NM_004364.5
p.E50delFs
c.148delC
1 paper
NM_004364.5
p.G36_E50delFs
c.106_148del43
3 papers
NM_004364.5
p.E50*
c.148G>T
1 paper
NM_004364.5
p.E50Q
c.148G>C
1 paper
NM_004364.5
p.P45_P49delFs
c.135_147del13
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