Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.L143R

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.L143R
c.428T>G
Surrounding Variants
1 paper
NM_004364.5
p.R142_L143delFs
c.424_427del4
1 paper
NM_004364.5
p.L143fs
c.427_428fs
1 paper
NM_004364.5
p.L143fs
c.427_428fs
1 paper
NM_004364.5
p.G141_R142insFs
c.422_426dup5
1 paper
NM_004364.5
p.R142delFs
c.426delC
1 paper
NM_004364.5
p.R142delFs
c.425_426delCC
1 paper
NM_004364.5
p.E144*
c.430G>T
3 papers
NM_004364.5
p.R142fs
c.424_425fs
2 papers
NM_004364.5
p.E144_P145insG
c.430_434ins3
1 paper
NM_004364.5
p.E144K
c.430G>A
1 paper
NM_004364.5
p.C133_L143delFs
c.399_429del31
2 papers
NM_004364.5
p.E144insFs
c.430dupG
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