Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q209_I210insC

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.Q209_I210insC
c.625_629ins3
Surrounding Variants
1 paper
NM_004364.5
p.Q209*
c.625C>T
1 paper
NM_004364.5
p.Q209_I210ins8
c.625_629ins24
1 paper
NM_004364.5
p.Q209delFs
c.625delG
2 papers
NM_004364.5
p.Q209fs
c.625_626fs
1 paper
NM_004364.5
p.F208_Q209del2
c.622_626del6
2 papers
NM_004364.5
p.Q207_Q209del3
c.619_626del9
1 paper
NM_004364.5
p.Q207fs
c.619_620fs
1 paper
NM_004364.5
p.Q207*
c.619C>T
2 papers
NM_004364.5
p.L206fs
c.616_617fs
1 paper
NM_004364.5
p.A211V
c.632C>T
1 paper
NM_004364.5
p.A211fs
c.631_632fs
1 paper
NM_004364.5
p.L206_Q207insG
c.616_620ins3
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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."