Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A113V

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.A113V
c.338C>T
Surrounding Variants
1 paper
NM_004364.5
p.A113G
c.338C>G
3 papers
NM_004364.5
p.A113insFs
c.337_338insC
1 paper
NM_004364.5
p.A113_G114insFs
c.339_340ins4
1 paper
NM_004364.5
p.A113insFs
c.338_339ins4
1 paper
NM_004364.5
p.A113fs
c.337_338fs
1 paper
NM_004364.5
p.A113_G114ins7
c.337_341ins21
3 papers
NM_004364.5
p.A113delFs
c.338delG
1 paper
NM_004364.5
p.A113fs
c.337_338fs
2 papers
NM_004364.5
p.P112_A113delFs
c.335_338del4
1 paper
NM_004364.5
p.P112del1
c.334_335delGGG
2 papers
NM_004364.5
p.P97_P112del16
c.289_335del48
1 paper
NM_004364.5
p.G114C
c.340G>T
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