Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A65fs

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
2 papers
NM_001287424.2
p.A65fs
c.193_194fs
NM_004364.5
p.A30fs
c.88_89fs
Surrounding Variants
1 paper
NM_004364.5
p.A30insFs
c.90dupC
3 papers
NM_004364.5
p.F31fs
c.91_92fs
1 paper
NM_004364.5
p.A29_F31insFs
c.85_91dup7
1 paper
NM_004364.5
p.F31S
c.92T>C
1 paper
NM_004364.5
p.A30_F31delFs
c.90_91delAG
1 paper
NM_004364.5
p.P26_A29insFs
c.78_87dup10
2 papers
NM_001287424.2
p.A64delFs
c.192delG
NM_004364.5
p.A29delFs
c.86delG
1 paper
NM_004364.5
p.H18_A29delFs
c.52_86del35
2 papers
NM_004364.5
p.A30fs
c.88_89fs
2 papers
NM_004364.5
p.F31insFs
c.92_93insT
2 papers
NM_004364.5
p.A29insFs
c.85_86dupGC
3 papers
NM_004364.5
p.F31fs
c.91_92fs
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