Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.D75delFs

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.D75delFs
c.224delT
Surrounding Variants
1 paper
NM_004364.5
p.D75E
c.225C>G
3 papers
NM_004364.5
p.D75fs
c.223_224fs
1 paper
NM_004364.5
p.D75E
c.225C>A
1 paper
NM_004364.5
p.D75delFs
c.223_224delTC
2 papers
NM_004364.5
p.E76*
c.226G>T
1 paper
NM_004364.5
p.E76_F77ins4
c.226_230ins12
3 papers
NM_004364.5
p.E76Q
c.226G>C
3 papers
NM_004364.5
p.E76K
c.226G>A
1 paper
NM_004364.5
p.A72_D75delFs
c.215_225del11
1 paper
NM_004364.5
p.E76fs
c.226_227fs
3 papers
NM_004364.5
p.D75insFs
c.223dupG
1 paper
NM_004364.5
p.D75ins1
c.224_225insCCC
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