Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.L78insFs

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.L78insFs
c.232_233ins7
Surrounding Variants
5 papers
NM_004364.5
p.L78fs
c.232_233fs
1 paper
NM_004364.5
p.F77insFs
c.230_231dupTC
2 papers
NM_004364.5
p.L78ins2
c.232_233ins6
1 paper
NM_004364.5
p.E76_L78ins1
c.227_232dup6
2 papers
NM_004364.5
p.E76_L78insFs
c.226_232dup7
12 papers
NM_004364.5
p.F77delFs
c.231delG
1 paper
NM_004364.5
p.F77insFs
c.230dupT
1 paper
NM_004364.5
p.F77insFs
c.229_230dupTT
1 paper
NM_004364.5
p.F77fs
c.229_230fs
1 paper
NM_004364.5
p.F77insFs
c.230_231ins5
1 paper
NM_004364.5
p.F77insFs
c.230_231insA
1 paper
NM_004364.5
p.F77Y
c.230T>A
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