Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q88insFs

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.Q88insFs
c.263_264ins7
Surrounding Variants
1 paper
NM_004364.5
p.D80_Q87delFs
c.240_261del22
1 paper
NM_004364.5
p.Q88H
c.264G>T
3 papers
NM_004364.5
p.Q88fs
c.262_263fs
1 paper
NM_004364.5
p.Q88H
c.264G>C
1 paper
NM_004364.5
p.Q88fs
c.262_263fs
1 paper
NM_004364.5
p.S85_Q88delFs
c.253_263del11
9 papers
NM_004364.5
p.Q88*
c.262C>T
1 paper
NM_004364.5
p.Q87insFs
c.260_261dupAG
2 papers
NM_004364.5
p.Q87delFs
c.260_261delCT
2 papers
NM_004364.5
p.E89*
c.265G>T
2 papers
NM_004364.5
p.Q87fs
c.259_260fs
1 paper
NM_004364.5
p.Q87Q
c.261G>A
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."