Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.E50G

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.E50G
c.149A>G
Surrounding Variants
1 paper
NM_004364.5
p.E50insFs
c.148dupG
1 paper
NM_004364.5
p.E50delFs
c.148delC
1 paper
NM_004364.5
p.G36_E50delFs
c.106_148del43
3 papers
NM_004364.5
p.E50*
c.148G>T
6 papers
NM_004364.5
p.E50fs
c.148_149fs
1 paper
NM_004364.5
p.E50Q
c.148G>C
1 paper
NM_004364.5
p.P45_P49delFs
c.135_147del13
2 papers
NM_004364.5
p.A44_P49delFs
c.131_147del17
4 papers
NM_004364.5
p.E50fs
c.148_149fs
3 papers
NM_004364.5
p.P49insFs
c.146_147insC
10 papers
NM_004364.5
p.P49fs
c.145_146fs
11 papers
NM_004364.5
p.P49delFs
c.146delG
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