Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.T217fs

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.T217fs
c.649_650fs
Surrounding Variants
1 paper
NM_004364.5
p.T217_M218insC
c.649_653ins3
1 paper
NM_004364.5
p.T216delFs
c.648delG
1 paper
NM_004364.5
p.I210_T216del7
c.628_647del21
1 paper
NM_004364.5
p.M218V
c.652A>G
1 paper
NM_004364.5
p.T216A
c.646A>G
2 papers
NM_004364.5
p.M218_H219insC
c.652_656ins3
1 paper
NM_004364.5
p.M218_H219insGT
c.652_656ins6
1 paper
NM_004364.5
p.F208_Q215del8
c.622_644del24
1 paper
NM_004364.5
p.G214_T217del4
c.640_650del12
1 paper
NM_004364.5
p.T216ins1
c.647_648insCCA
1 paper
NM_004364.5
p.M218insFs
c.652_653dupAT
1 paper
NM_004364.5
p.M218fs
c.652_653fs
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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."