Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.E59*

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
20 papers
NM_004364.5
p.E59*
c.175G>T
Surrounding Variants
1 paper
NM_004364.5
p.E59Fs
c.175delinsCTFs
1 paper
NM_004364.5
p.E59Q
c.175G>C
1 paper
NM_004364.5
p.E59K
c.175G>A
1 paper
NM_004364.5
p.L52_H58del7
c.154_173del21
1 paper
NM_004364.5
p.E59fs
c.175_176fs
2 papers
NM_004364.5
p.H58insFs
c.173dupA
1 paper
NM_004364.5
p.E59G
c.176A>G
3 papers
NM_004364.5
p.H58Fs
c.174delinsCGFs
3 papers
NM_004364.5
p.E59fs
c.175_176fs
1 paper
NM_004364.5
p.H58insFs
c.173_174insCC
5 papers
NM_004364.5
p.T60fs
c.178_179fs
1 paper
NM_004364.5
p.H58N
c.172C>A
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