Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P70fs

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
3 papers
NM_004364.5
p.P70fs
c.208_209fs
Surrounding Variants
7 papers
NM_004364.5
p.P70insFs
c.209_210insC
1 paper
NM_004364.5
p.P70insFs
c.209_210ins8
3 papers
NM_004364.5
p.D69delFs
c.207delG
1 paper
NM_004364.5
p.P70delFs
c.208_209delGG
2 papers
NM_004364.5
p.D69_P70del1
c.207_209delGGG
1 paper
NM_004364.5
p.A71S
c.211G>T
1 paper
NM_004364.5
p.P70del1
c.208_209delCGG
1 paper
NM_004364.5
p.P70L
c.209C>T
1 paper
NM_004364.5
p.A71fs
c.211_212fs
1 paper
NM_004364.5
p.P70fs
c.208_209fs
1 paper
NM_004364.5
p.P70S
c.208C>T
2 papers
NM_004364.5
p.P70_A71ins7
c.208_212ins21
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