Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G141_E148delFs

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.G141_E148delFs
c.421_442del22
Surrounding Variants
1 paper
NM_004364.5
p.L143_E148delFs
c.429_442del14
1 paper
NM_004364.5
p.A135_Y147del13
c.403_440del39
5 papers
NM_004364.5
p.E148*
c.442G>T
1 paper
NM_004364.5
p.E148fs
c.442_443fs
1 paper
NM_004364.5
p.E148K
c.442G>A
1 paper
NM_004364.5
p.Y147Y
c.441C>T
1 paper
NM_004364.5
p.R149delFs
c.445delG
1 paper
NM_004364.5
p.L146_Y147insFs
c.438_439dupGT
1 paper
NM_004364.5
p.A134_L146del13
c.400_437del39
1 paper
NM_004364.5
p.R149fs
c.445_446fs
4 papers
NM_004364.5
p.L146fs
c.436_437fs
1 paper
NM_004364.5
p.L146L
c.438G>A
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