Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.L81_F82insCC

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.L81_F82insCC
c.241_245ins6
Surrounding Variants
3 papers
NM_004364.5
p.L81fs
c.241_242fs
1 paper
NM_004364.5
p.L81insFs
c.241_242ins4
2 papers
NM_004364.5
p.D80_L81insFs
c.238_241dup4
1 paper
NM_004364.5
p.L81delFs
c.241delG
2 papers
NM_004364.5
p.D80D
c.240C>T
4 papers
NM_004364.5
p.D80fs
c.238_239fs
1 paper
NM_001287435.2
p.L67L
c.201G>T
1 paper
NM_004364.5
p.L81insFs
c.242dupT
5 papers
NM_004364.5
p.L81fs
c.241_242fs
1 paper
NM_004364.5
p.D80V
c.239A>T
11 papers
NM_004364.5
p.D80insFs
c.238dupG
1 paper
NM_004364.5
p.D80insFs
c.238_239ins4
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