Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.D80fs

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.D80fs
c.238_239fs
Surrounding Variants
1 paper
NM_004364.5
p.D80N
c.238G>A
1 paper
NM_004364.5
p.A79_D80insFs
c.237_238insGC
2 papers
NM_004364.5
p.A79fs
c.235_236fs
1 paper
NM_004364.5
p.D80V
c.239A>T
11 papers
NM_004364.5
p.D80insFs
c.238dupG
1 paper
NM_004364.5
p.D80insFs
c.238_239ins4
2 papers
NM_004364.5
p.D80delFs
c.238delC
1 paper
NM_004364.5
p.A79_D80delFs
c.237_238delCG
2 papers
NM_004364.5
p.D80D
c.240C>T
4 papers
NM_004364.5
p.D80fs
c.238_239fs
2 papers
NM_004364.5
p.D69_L78del10
c.205_233del30
1 paper
NM_004364.5
p.L78insFs
c.233_234dupTG
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