Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.A48fs

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.A48fs
c.142_143fs
Surrounding Variants
2 papers
NM_004364.5
p.A48_P49insFs
c.144_145insG
5 papers
NM_004364.5
p.P49fs
c.145_146fs
3 papers
NM_004364.5
p.A48Fs
c.143delinsGGFs
1 paper
NM_004364.5
p.A48insFs
c.142dupG
1 paper
NM_004364.5
p.P49_E50ins4
c.145_149ins12
1 paper
NM_004364.5
p.A48S
c.142G>T
1 paper
NM_004364.5
p.A47delFs
c.141delG
1 paper
NM_004364.5
p.A47delFs
c.140_141delGG
1 paper
NM_004364.5
p.P49L
c.146C>T
1 paper
NM_004364.5
p.P49R
c.146C>G
1 paper
NM_004364.5
p.A48fs
c.142_143fs
3 papers
NM_004364.5
p.P49insFs
c.146_147insC
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