Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Y181insFs

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.Y181insFs
c.541_542insCC
Surrounding Variants
1 paper
NM_004364.5
p.A176_P180del5
c.526_539del15
1 paper
NM_004364.5
p.Y181fs
c.541_542fs
2 papers
NM_004364.5
p.P180insFs
c.539dupC
9 papers
NM_004364.5
p.P180fs
c.538_539fs
7 papers
NM_004364.5
p.P180delFs
c.539delG
1 paper
NM_004364.5
p.Y181S
c.542A>C
1 paper
NM_004364.5
p.Y181insFs
c.542_543insTT
1 paper
NM_004364.5
p.Y181delFs
c.541delA
1 paper
NM_004364.5
p.Y181Y
c.543C>T
1 paper
NM_004364.5
p.P180L
c.539C>T
7 papers
NM_004364.5
p.Y181*
c.543C>G
1 paper
NM_004364.5
p.Y181fs
c.541_542fs
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