Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q41fs

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.Q41fs
c.121_122fs
Surrounding Variants
1 paper
NM_004364.5
p.Q41*
c.121C>T
1 paper
NM_004364.5
p.R35_A40delFs
c.105_120del16
1 paper
NM_004364.5
p.A40insFs
c.119dupC
7 papers
NM_004364.5
p.A40fs
c.118_119fs
1 paper
NM_001287424.2
p.A75delFs
c.224delG
1 paper
NM_004364.5
p.F33_A40delFs
c.97_119del23
2 papers
NM_004364.5
p.H24_A40delFs
c.71_119del49
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
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