Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.M1_S3insFs

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.M1_S3insFs
c.1_8dup8
Surrounding Variants
1 paper
NM_004364.5
p.S3_A4insFs
c.9_10insT
1 paper
NM_004364.5
p.S3insFs
c.8dupC
1 paper
NM_004364.5
p.M1_S3delFs
c.1_8del8
1 paper
NM_004364.5
p.S3L
c.8C>T
2 papers
NM_004364.5
p.S3insFs
c.7dupT
3 papers
NM_004364.5
p.S3*
c.8C>A
1 paper
NM_004364.5
p.A4V
c.11C>T
1 paper
NM_004364.5
p.E2E
c.6G>A
1 paper
NM_004364.5
p.A4Fs
c.12delinsGAFs
2 papers
NM_004364.5
p.D5H
c.13G>C
1 paper
NM_004364.5
p.E2G
c.5A>G
2 papers
NM_004364.5
p.E2*
c.4G>T
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