Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.N190K

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.N190K
c.570T>G
Surrounding Variants
1 paper
NM_001372066.1
p.N190K
c.570T>A
1 paper
NM_001372066.1
p.N190delFs
c.569delT
1 paper
NM_001372066.1
p.A191T
c.571G>A
1 paper
NM_001372066.1
p.S193C
c.578C>G
1 paper
NM_001372066.1
p.K186_S187insGTT
c.556_560ins9
1 paper
NM_001372066.1
p.P196S
c.586C>T
1 paper
NM_001372066.1
p.S183F
c.548C>T
1 paper
NM_001372066.1
p.K199T
c.596A>C
2 papers
NM_001372066.1
p.K199delFs
c.596delT
1 paper
NM_001372066.1
p.P181L
c.542C>T
1 paper
NM_001372066.1
p.P181_V182insT
c.541_545ins3
1 paper
NM_001372066.1
p.G180G
c.540C>T
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