Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G123R

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.G123R
c.367G>C
Surrounding Variants
2 papers
NM_004364.5
p.G123*
c.367G>T
1 paper
NM_004364.5
p.G123R
c.367G>A
1 paper
NM_004364.5
p.M120_G122delins
c.359_365delinsT
2 papers
NM_004364.5
p.G122fs
c.364_365fs
1 paper
NM_004364.5
p.G123insFs
c.368_369insA
1 paper
NM_004364.5
p.G123A
c.368G>C
7 papers
NM_004364.5
p.G122E
c.365G>A
1 paper
NM_004364.5
p.A111_P121del11
c.331_362del33
2 papers
NM_004364.5
p.G123insFs
c.368dupG
1 paper
NM_004364.5
p.G123insFs
c.367_368dupGG
2 papers
NM_004364.5
p.G123fs
c.367_368fs
1 paper
NM_004364.5
p.G123delFs
c.368delC
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