Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.S17_H18insGG

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.S17_H18insGG
c.49_53ins6
Surrounding Variants
1 paper
NM_004364.5
p.S17fs
c.49_50fs
1 paper
NM_004364.5
p.S17R
c.49A>C
1 paper
NM_004364.5
p.S16insFs
c.47_48ins5
1 paper
NM_004364.5
p.S17_H18ins5
c.49_53ins15
3 papers
NM_004364.5
p.S17insFs
c.49dupA
1 paper
NM_004364.5
p.S16insFs
c.46dupA
2 papers
NM_004364.5
p.S16N
c.47G>A
1 paper
NM_004364.5
p.S17R
c.51C>G
4 papers
NM_004364.5
p.S17fs
c.49_50fs
1 paper
NM_004364.5
p.S17R
c.51C>A
1 paper
NM_004364.5
p.S17delFs
c.50delC
1 paper
NM_004364.5
p.S17insFs
c.49_50ins4
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."