Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2E
Variant:p.L228F

TFAP2E

46 papers

Pfam Domains

TF_AP-2aa 218–412UCSCTranscription factor AP-2

Gene Aliases

HGNC Name

transcription factor AP-2 epsilon

HGNC Alias Symbols

AP2E; AP-2epsilon

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178548.4
p.L228F
c.682C>T
Surrounding Variants
1 paper
NM_178548.4
p.S229T
c.686G>C
1 paper
NM_178548.4
p.R224Q
c.671G>A
1 paper
NM_178548.4
p.R224W
c.670C>T
1 paper
NM_178548.4
p.V221M
c.661G>A
1 paper
NM_178548.4
p.C219G
c.655T>G
2 papers
NM_178548.4
p.T237M
c.710C>T
1 paper
NM_178548.4
p.R244*
c.730C>T
1 paper
NM_178548.4
p.G210S
c.628G>A
1 paper
NM_178548.4
p.C250Y
c.749G>A
1 paper
NM_178548.4
p.L256M
c.766C>A
1 paper
NM_178548.4
p.P191S
c.571C>T
1 paper
NM_178548.4
p.V188Splc
c.563-20C>T
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