Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A47_L52Fs

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_004364.5
p.A47_L52Fs
c.139_155delinsAGGCFs
Surrounding Variants
1 paper
NM_004364.5
p.L52insFs
c.155_156ins4
1 paper
NM_004364.5
p.L52insFs
c.155_156insAT
1 paper
NM_004364.5
p.A48_L52delFs
c.144_154del11
2 papers
NM_004364.5
p.L52insFs
c.155dupT
3 papers
NM_004364.5
p.L52fs
c.154_155fs
1 paper
NM_004364.5
p.P42_L52delFs
c.125_155del31
1 paper
NM_004364.5
p.L52_G53ins4
c.154_158ins12
3 papers
NM_004364.5
p.P51fs
c.151_152fs
1 paper
NM_004364.5
p.G53S
c.157G>A
1 paper
NM_004364.5
p.P45_L52delFs
c.135_156del22
3 papers
NM_004364.5
p.P51delFs
c.152delG
2 papers
NM_004364.5
p.G53fs
c.157_158fs
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