Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.H84Q

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
4 papers
NM_004364.5
p.H84Q
c.252C>A
Surrounding Variants
4 papers
NM_004364.5
p.H84Q
c.252C>G
2 papers
NM_004364.5
p.H84fs
c.250_251fs
1 paper
NM_004364.5
p.S85fs
c.253_254fs
1 paper
NM_004364.5
p.H84L
c.251A>T
1 paper
NM_004364.5
p.H84insFs
c.250dupC
1 paper
NM_004364.5
p.H84delFs
c.252delG
1 paper
NM_004364.5
p.S85T
c.254G>C
1 paper
NM_004364.5
p.F82_Q83insFs
c.245_249dup5
1 paper
NM_004364.5
p.Q83_H84Fs
c.249_250delinsTFs
1 paper
NM_004364.5
p.F73_Q83del11
c.217_248del33
1 paper
NM_004364.5
p.H84fs
c.250_251fs
22 papers
NM_004364.5
p.Q83fs
c.247_248fs
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."