Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.A286delFs

TFAP2A

471 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar famil...

Pfam Domains

TF_AP-2aa 213–407UCSCTranscription factor AP-2

Gene Aliases

HGNC Name

transcription factor AP-2 alpha

HGNC Previous Symbols

TFAP2; AP2TF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001372066.1
p.A286delFs
c.856delC
Surrounding Variants
1 paper
NM_001372066.1
p.A286V
c.857C>T
1 paper
NM_001372066.1
p.A285A
c.855T>C
1 paper
NM_001372066.1
p.N287N
c.861C>T
2 papers
NM_001372066.1
p.R283C
c.847C>T
1 paper
NM_001372066.1
p.R282G
c.844A>G
1 paper
NM_001372066.1
p.G281E
c.842G>A
5 papers
NM_001372066.1
p.E296K
c.886G>A
1 paper
NM_001372066.1
p.L276S
c.827T>C
1 paper
NM_001372066.1
p.L271P
c.812T>C
1 paper
NM_001372066.1
p.R268I
c.803G>T
1 paper
NM_001372066.1
p.L267F
c.801A>T
1 paper
NM_001372066.1
p.L267F
c.801A>C
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