Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.D69D

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.D69D
c.207C>T
Surrounding Variants
3 papers
NM_004364.5
p.D69fs
c.205_206fs
1 paper
NM_004364.5
p.D69insFs
c.206dupA
1 paper
NM_004364.5
p.P70fs
c.208_209fs
1 paper
NM_004364.5
p.P70S
c.208C>T
2 papers
NM_004364.5
p.P70_A71ins7
c.208_212ins21
2 papers
NM_004364.5
p.D69insFs
c.206_207insG
1 paper
NM_004364.5
p.I68_D69insFs
c.204_205dupCG
1 paper
NM_004364.5
p.D69insFs
c.206_207insTA
1 paper
NM_004364.5
p.D69insFs
c.206_207ins4
2 papers
NM_004364.5
p.I68_D69Fs
c.204_205delinsCFs
1 paper
NM_004364.5
p.A66_D69delFs
c.196_205del10
1 paper
NM_004364.5
p.D63_D69Fs
c.187_206delinsTGGGFs
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