Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.H193L

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.H193L
c.578A>T
Surrounding Variants
1 paper
NM_004364.5
p.H193R
c.578A>G
1 paper
NM_004364.5
p.P187_H193del0
c.560_577del18
1 paper
NM_004364.5
p.P185_H191del7
c.553_572del21
1 paper
NM_004364.5
p.P184_H191del8
c.550_572del24
1 paper
NM_004364.5
p.P183_P192del10
c.547_575del30
1 paper
NM_004364.5
p.P180_P192del13
c.538_575del39
1 paper
NM_004364.5
p.H193N
c.577C>A
1 paper
NM_004364.5
p.P192_H193ins2
c.576_577ins6
1 paper
NM_004364.5
p.P194S
c.580C>T
1 paper
NM_004364.5
p.Y181_H193ins4
c.541_579dup39
1 paper
NM_004364.5
p.P194_H195ins5
c.580_584ins15
1 paper
NM_004364.5
p.P194T
c.580C>A
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