Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.Q221_P222insAA

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.Q221_P222insAA
c.661_665ins6
Surrounding Variants
1 paper
NM_004364.5
p.Q221*
c.661C>T
1 paper
NM_004364.5
p.L220insFs
c.659dupT
3 papers
NM_004364.5
p.L220fs
c.658_659fs
1 paper
NM_004364.5
p.L220fs
c.658_659fs
1 paper
NM_004364.5
p.P222S
c.664C>T
1 paper
NM_004364.5
p.M218_H219del2
c.652_656del6
1 paper
NM_004364.5
p.H219fs
c.655_656fs
3 papers
NM_004364.5
p.M218_H219insFs
c.653_656dup4
1 paper
NM_004364.5
p.Q215_P222insFs
c.644_665dup22
1 paper
NM_004364.5
p.G223R
c.667G>C
4 papers
NM_004364.5
p.G223S
c.667G>A
1 paper
NM_004364.5
p.H219Y
c.655C>T
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