Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.T310_Q312del0

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
3 papers
NM_004364.5
p.T310_Q312del0
c.929_934del6
Surrounding Variants
1 paper
NM_004364.5
p.Q312R
c.935A>G
2 papers
NM_004364.5
p.Q312P
c.935A>C
1 paper
NM_004364.5
p.Q312ins1
c.935_936insTTT
1 paper
NM_004364.5
p.Q311_Q312ins9
c.933_934ins27
2 papers
NM_004364.5
p.R306_Q312ins2
c.917_934dup18
1 paper
NM_004364.5
p.R297_Q312ins5
c.890_934dup45
1 paper
NM_004364.5
p.Q311_Q312delFs
c.933_934delGC
1 paper
NM_004364.5
p.E309_Q312delins
c.925_935delinsCT
10 papers
NM_004364.5
p.R306_Q312del0
c.917_934del18
6 papers
NM_004364.5
p.Q312_K313ins1
c.936_937insCAG
1 paper
NM_004364.5
p.Q312_K313ins6
c.936_937ins18
3 papers
NM_004364.5
p.Q312fs
c.934_935fs
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