Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A40fs

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
7 papers
NM_004364.5
p.A40fs
c.118_119fs
Surrounding Variants
1 paper
NM_004364.5
p.A40insFs
c.119dupC
1 paper
NM_001287424.2
p.A75delFs
c.224delG
1 paper
NM_004364.5
p.F33_A40delFs
c.97_119del23
2 papers
NM_004364.5
p.H24_A40delFs
c.71_119del49
1 paper
NM_004364.5
p.Q41fs
c.121_122fs
1 paper
NM_004364.5
p.Q41*
c.121C>T
1 paper
NM_004364.5
p.A40V
c.119C>T
1 paper
NM_004364.5
p.A40G
c.119C>G
1 paper
NM_004364.5
p.R35_P39insFs
c.105_117dup13
1 paper
NM_004364.5
p.A40delFs
c.118delC
1 paper
NM_004364.5
p.R35_A40delFs
c.105_120del16
1 paper
NM_004364.5
p.G38_A40delFs
c.112_118del7
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."