Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G54fs

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.G54fs
c.160_161fs
Surrounding Variants
1 paper
NM_004364.5
p.G54_I55insFs
c.162_163insTT
3 papers
NM_004364.5
p.G54_I55insFs
c.162_163insG
1 paper
NM_004364.5
p.L52_G53insFs
c.156_159dup4
1 paper
NM_004364.5
p.G54delFs
c.161delC
2 papers
NM_004364.5
p.G53_G54delFs
c.158_161del4
4 papers
NM_004364.5
p.I55fs
c.163_164fs
2 papers
NM_004364.5
p.G54insFs
c.162dupC
1 paper
NM_004364.5
p.G53_G54insFs
c.159_160ins4
2 papers
NM_004364.5
p.G54fs
c.160_161fs
6 papers
NM_004364.5
p.I55fs
c.163_164fs
2 papers
NM_004364.5
p.G53fs
c.157_158fs
3 papers
NM_004364.5
p.I55delFs
c.165delG
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