Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q41Q

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.Q41Q
c.123G>A
Surrounding Variants
2 papers
NM_004364.5
p.Q41fs
c.121_122fs
1 paper
NM_004364.5
p.A37_Q41Fs
c.109_123delinsAFs
2 papers
NM_004364.5
p.P42S
c.124C>T
1 paper
NM_004364.5
p.P42A
c.124C>G
1 paper
NM_004364.5
p.P42insFs
c.124_125insGC
1 paper
NM_004364.5
p.A37_Q41del0
c.109_123del15
2 papers
NM_004364.5
p.Q41P
c.122A>C
1 paper
NM_004364.5
p.A40_Q41delFs
c.120_121delGC
1 paper
NM_004364.5
p.G38_A40delFs
c.114_120del7
1 paper
NM_004364.5
p.A37_Q41delFs
c.111_121del11
1 paper
NM_004364.5
p.A37_Q41delFs
c.109_121del13
1 paper
NM_004364.5
p.Q41fs
c.121_122fs
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