Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A93fs

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.A93fs
c.277_278fs
Surrounding Variants
1 paper
NM_004364.5
p.A93Fs
c.277delinsTGFs
1 paper
NM_004364.5
p.A93_A94ins7
c.277_281ins21
1 paper
NM_004364.5
p.A93P
c.277G>C
1 paper
NM_004364.5
p.F82_K92del11
c.244_275del33
1 paper
NM_004364.5
p.K92_A93insFs
c.276_277ins7
1 paper
NM_004364.5
p.K92fs
c.274_275fs
3 papers
NM_004364.5
p.K92insFs
c.275dupA
1 paper
NM_004364.5
p.A91_K92insFs
c.273_274ins4
2 papers
NM_004364.5
p.A93G
c.278C>G
1 paper
NM_004364.5
p.A93insFs
c.277_278insG
1 paper
NM_004364.5
p.A93insFs
c.278dupC
2 papers
NM_004364.5
p.K92_A93insFs
c.274_278dup5
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