Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.R12P

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.R12P
c.35G>C
Surrounding Variants
3 papers
NM_004364.5
p.R12L
c.35G>T
6 papers
NM_004364.5
p.R12Q
c.35G>A
2 papers
NM_004364.5
p.R12R
c.36G>A
1 paper
NM_004364.5
p.E10_R12delFs
c.28_34del7
1 paper
NM_004364.5
p.E8_P11delFs
c.22_32del11
2 papers
NM_004364.5
p.P11fs
c.31_32fs
1 paper
NM_004364.5
p.P13S
c.37C>T
1 paper
NM_004364.5
p.P11L
c.32C>T
1 paper
NM_004364.5
p.P11Q
c.32C>A
1 paper
NM_004364.5
p.P13fs
c.37_38fs
1 paper
NM_004364.5
p.P14S
c.40C>T
1 paper
NM_004364.5
p.P14L
c.41C>T
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