Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A243fs

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.A243fs
c.727_728fs
Surrounding Variants
1 paper
NM_004364.5
p.L241_G242insFs
c.722_725dup4
1 paper
NM_004364.5
p.A243insFs
c.727_728insAG
1 paper
NM_004364.5
p.A243_A244ins4
c.727_731ins12
1 paper
NM_004364.5
p.G242V
c.725G>T
1 paper
NM_004364.5
p.G242C
c.724G>T
5 papers
NM_004364.5
p.G242S
c.724G>A
1 paper
NM_004364.5
p.L241L
c.723C>T
1 paper
NM_004364.5
p.L241fs
c.721_722fs
1 paper
NM_004364.5
p.P237_A238del2
c.709_713del6
1 paper
NM_004364.5
p.G245C
c.733G>T
1 paper
NM_004364.5
p.A244ins2
c.731_732ins6
1 paper
NM_004364.5
p.G245_L246insGG
c.733_737ins6
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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."