Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.L139delFs

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.L139delFs
c.416delA
Surrounding Variants
1 paper
NM_004364.5
p.D140N
c.418G>A
3 papers
NM_004364.5
p.D140fs
c.418_419fs
1 paper
NM_004364.5
p.L139fs
c.415_416fs
2 papers
NM_004364.5
p.L139_D140insFs
c.415_418dup4
1 paper
NM_004364.5
p.L139_D140del1
c.416_418delCCA
2 papers
NM_004364.5
p.Y138*
c.414C>G
7 papers
NM_004364.5
p.D140fs
c.418_419fs
2 papers
NM_004364.5
p.Y138fs
c.412_413fs
2 papers
NM_004364.5
p.Y138insFs
c.413dupA
2 papers
NM_004364.5
p.Y138*
c.414C>A
5 papers
NM_004364.5
p.G141C
c.421G>T
1 paper
NM_004364.5
p.D140_G141insFs
c.420_421ins4
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