Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q83delFs

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
28 papers
NM_004364.5
p.Q83delFs
c.247delG
Surrounding Variants
9 papers
NM_004364.5
p.Q83insFs
c.247dupC
22 papers
NM_004364.5
p.Q83fs
c.247_248fs
1 paper
NM_004364.5
p.Q83insFs
c.248dupA
3 papers
NM_004364.5
p.F82_Q83insFs
c.245_248dup4
15 papers
NM_004364.5
p.Q83fs
c.247_248fs
1 paper
NM_004364.5
p.L81_Q83delFs
c.241_248del8
4 papers
NM_004364.5
p.Q83*
c.247C>T
1 paper
NM_004364.5
p.Q83insFs
c.247_248insGT
1 paper
NM_004364.5
p.Q83_H84insGG
c.247_251ins6
1 paper
NM_004364.5
p.F82L
c.246C>G
1 paper
NM_004364.5
p.F82_Q83insFs
c.245_249dup5
6 papers
NM_004364.5
p.F82fs
c.244_245fs
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