Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.G242V

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.G242V
c.725G>T
Surrounding Variants
1 paper
NM_004364.5
p.G242C
c.724G>T
5 papers
NM_004364.5
p.G242S
c.724G>A
1 paper
NM_004364.5
p.L241_G242insFs
c.722_725dup4
1 paper
NM_004364.5
p.A243insFs
c.727_728insAG
1 paper
NM_004364.5
p.A243_A244ins4
c.727_731ins12
1 paper
NM_004364.5
p.L241L
c.723C>T
1 paper
NM_004364.5
p.L241fs
c.721_722fs
1 paper
NM_004364.5
p.A243fs
c.727_728fs
1 paper
NM_004364.5
p.P237_A238del2
c.709_713del6
1 paper
NM_004364.5
p.L241F
c.721C>T
1 paper
NM_004364.5
p.L241_G242ins4
c.721_725ins12
1 paper
NM_004364.5
p.L241fs
c.721_722fs
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