Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G137_Y138insC

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.G137_Y138insC
c.409_413ins3
Surrounding Variants
1 paper
NM_004364.5
p.G137S
c.409G>A
1 paper
NM_004364.5
p.G137fs
c.409_410fs
2 papers
NM_004364.5
p.A136A
c.408C>G
1 paper
NM_004364.5
p.A136A
c.408C>A
1 paper
NM_004364.5
p.Y131_A136delFs
c.392_407del16
1 paper
NM_004364.5
p.A136G
c.407C>G
1 paper
NM_004364.5
p.G137fs
c.409_410fs
1 paper
NM_004364.5
p.A134_G137delFs
c.400_410del11
1 paper
NM_004364.5
p.A136T
c.406G>A
1 paper
NM_004364.5
p.Y138F
c.413A>T
2 papers
NM_004364.5
p.Y138*
c.414C>G
2 papers
NM_004364.5
p.Y138fs
c.412_413fs
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