Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.N17K

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.N25K
c.75C>A
Surrounding Variants
2 papers
NM_001372066.1
p.G26R
c.76G>A
1 paper
NM_001372066.1
p.G26E
c.77G>A
1 paper
NM_001372066.1
p.G26G
c.78G>A
1 paper
NM_001372066.1
p.S24T
c.71G>C
1 paper
NM_001372066.1
p.S24N
c.71G>A
1 paper
NM_001372066.1
p.T27K
c.80C>A
1 paper
NM_001372066.1
p.S24R
c.70A>C
1 paper
NM_001372066.1
p.T27T
c.81G>T
1 paper
NM_001372066.1
p.T23S
c.68C>G
1 paper
NM_001372066.1
p.A28G
c.83C>G
1 paper
NM_001372066.1
p.G22S
c.64G>A
1 paper
NM_001372066.1
p.L30F
c.90G>C
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