Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A47fs

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
4 papers
NM_004364.5
p.A47fs
c.139_140fs
Surrounding Variants
1 paper
NM_004364.5
p.A47_A48ins5
c.139_143ins15
1 paper
NM_004364.5
p.A47T
c.139G>A
1 paper
NM_004364.5
p.P46delFs
c.138delA
2 papers
NM_004364.5
p.P46insFs
c.137_138insC
3 papers
NM_004364.5
p.P46fs
c.136_137fs
1 paper
NM_004364.5
p.A47G
c.140C>G
5 papers
NM_004364.5
p.A47fs
c.139_140fs
1 paper
NM_004364.5
p.A47delFs
c.139_140delGC
1 paper
NM_004364.5
p.P46fs
c.136_137fs
1 paper
NM_004364.5
p.A48S
c.142G>T
1 paper
NM_004364.5
p.A47delFs
c.141delG
1 paper
NM_004364.5
p.A47delFs
c.140_141delGG
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