Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G130S

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.G130S
c.388G>A
Surrounding Variants
2 papers
NM_004364.5
p.G130_Y131insAG
c.388_392ins6
1 paper
NM_004364.5
p.G130V
c.389G>T
1 paper
NM_004364.5
p.G130insFs
c.389_390insG
1 paper
NM_004364.5
p.P129insFs
c.386_387ins4
1 paper
NM_004364.5
p.Y131_G132ins13
c.391_395ins39
2 papers
NM_004364.5
p.P128insFs
c.383dupC
1 paper
NM_004364.5
p.P128insFs
c.382_383dupCC
2 papers
NM_004364.5
p.P128fs
c.382_383fs
2 papers
NM_004364.5
p.P127delFs
c.380delG
1 paper
NM_004364.5
p.P112_P127del16
c.334_380del48
1 paper
NM_004364.5
p.Y131F
c.392A>T
1 paper
NM_004364.5
p.Y131_G132insFs
c.393_394insT
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