Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.E144K

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.E144K
c.430G>A
Surrounding Variants
1 paper
NM_004364.5
p.E144*
c.430G>T
2 papers
NM_004364.5
p.E144_P145insG
c.430_434ins3
1 paper
NM_004364.5
p.C133_L143delFs
c.399_429del31
1 paper
NM_004364.5
p.L143fs
c.427_428fs
2 papers
NM_004364.5
p.E144insFs
c.430dupG
1 paper
NM_004364.5
p.L143R
c.428T>G
1 paper
NM_004364.5
p.R142_L143delFs
c.424_427del4
2 papers
NM_004364.5
p.E144fs
c.430_431fs
1 paper
NM_004364.5
p.L143fs
c.427_428fs
1 paper
NM_004364.5
p.P145S
c.433C>T
1 paper
NM_004364.5
p.P145insFs
c.433_434insG
1 paper
NM_004364.5
p.G141_R142insFs
c.422_426dup5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."