Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.L206_Q207insTA

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.L206_Q207insTA
c.616_620ins6
Surrounding Variants
1 paper
NM_004364.5
p.L206_Q207insG
c.616_620ins3
1 paper
NM_004364.5
p.L206_Q207ins4
c.616_620ins12
2 papers
NM_004364.5
p.L206fs
c.616_617fs
1 paper
NM_004364.5
p.Q207fs
c.619_620fs
1 paper
NM_004364.5
p.Q207*
c.619C>T
1 paper
NM_004364.5
p.H205_L206ins6
c.613_617ins18
5 papers
NM_004364.5
p.P204fs
c.610_611fs
1 paper
NM_004364.5
p.P204P
c.612G>C
6 papers
NM_004364.5
p.P204delFs
c.611delG
2 papers
NM_004364.5
p.P204fs
c.610_611fs
1 paper
NM_004364.5
p.P204S
c.610C>T
1 paper
NM_004364.5
p.A199_A203del5
c.595_608del15
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