Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.L246fs

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
2 papers
NM_004364.5
p.L246fs
c.736_737fs
Surrounding Variants
1 paper
NM_004364.5
p.G245V
c.734G>T
1 paper
NM_004364.5
p.L246insFs
c.737dupT
1 paper
NM_004364.5
p.L246fs
c.736_737fs
3 papers
NM_004364.5
p.G245D
c.734G>A
1 paper
NM_004364.5
p.L241_L246delFs
c.721_737del17
1 paper
NM_004364.5
p.A244_G245Fs
c.730_734delinsTCCTFs
1 paper
NM_004364.5
p.G245C
c.733G>T
1 paper
NM_004364.5
p.A244ins2
c.731_732ins6
1 paper
NM_004364.5
p.G245_L246insGG
c.733_737ins6
2 papers
NM_004364.5
p.G245_L246ins5
c.733_737ins15
1 paper
NM_004364.5
p.G245_L246ins7
c.733_737ins21
4 papers
NM_004364.5
p.G245S
c.733G>A
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