Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A240V

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.A240V
c.719C>T
Surrounding Variants
1 paper
NM_004364.5
p.A240E
c.719C>A
4 papers
NM_004364.5
p.A240fs
c.718_719fs
2 papers
NM_004364.5
p.P239delFs
c.717delG
1 paper
NM_004364.5
p.P225_P239delFs
c.673_715del43
1 paper
NM_004364.5
p.L241F
c.721C>T
4 papers
NM_004364.5
p.P239fs
c.715_716fs
1 paper
NM_004364.5
p.L241_G242ins4
c.721_725ins12
1 paper
NM_004364.5
p.L241fs
c.721_722fs
1 paper
NM_004364.5
p.A240_L241delins
c.720_721delinsCT
1 paper
NM_004364.5
p.P237_A238del2
c.709_713del6
1 paper
NM_004364.5
p.L241L
c.723C>T
2 papers
NM_004364.5
p.P239A
c.715C>G
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