Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q172H

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.Q172H
c.516G>C
Surrounding Variants
1 paper
NM_004364.5
p.Q172Q
c.516G>A
1 paper
NM_004364.5
p.L173_A174insCC
c.517_521ins6
1 paper
NM_004364.5
p.Q172*
c.514C>T
1 paper
NM_004364.5
p.K171fs
c.511_512fs
1 paper
NM_004364.5
p.K171insFs
c.512dupA
1 paper
NM_004364.5
p.A174S
c.520G>T
1 paper
NM_004364.5
p.K171Fs
c.511delinsCGFs
1 paper
NM_004364.5
p.A170delFs
c.510delG
1 paper
NM_004364.5
p.A174A
c.522G>A
3 papers
NM_004364.5
p.A170T
c.508G>A
1 paper
NM_004364.5
p.E169fs
c.505_506fs
1 paper
NM_004364.5
p.E167_D168insFs
c.501_504dup4
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."