Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G104C

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.G104C
c.310G>T
Surrounding Variants
1 paper
NM_004364.5
p.G103delFs
c.309delG
1 paper
NM_004364.5
p.G104fs
c.310_311fs
1 paper
NM_004364.5
p.G104V
c.311G>T
1 paper
NM_004364.5
p.G104D
c.311G>A
2 papers
NM_004364.5
p.G103fs
c.307_308fs
2 papers
NM_004364.5
p.G103delFs
c.307delC
1 paper
NM_004364.5
p.G103delFs
c.307_308delCC
1 paper
NM_004364.5
p.G96_G103delFs
c.287_308del22
1 paper
NM_004364.5
p.V95_G103del0
c.284_307del24
2 papers
NM_004364.5
p.G104fs
c.310_311fs
2 papers
NM_004364.5
p.G104delFs
c.311delC
1 paper
NM_004364.5
p.G104delFs
c.310_311delCC
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