Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.Q56P

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.Q56P
c.167A>C
Surrounding Variants
1 paper
NM_001372066.1
p.Y59N
c.175T>A
2 papers
NM_001372066.1
p.N52K
c.156T>A
1 paper
NM_001372066.1
p.P61insFs
c.181_182insT
1 paper
NM_001372066.1
p.P61R
c.182C>G
1 paper
NM_001372066.1
p.T50T
c.150C>A
1 paper
NM_001372066.1
p.T50I
c.149C>T
3 papers
NM_001372066.1
p.P62R
c.185C>G
1 paper
NM_001372066.1
p.T50S
c.149C>G
1 paper
NM_001372066.1
p.T50P
c.148A>C
1 paper
NM_001372066.1
p.H49L
c.146A>T
1 paper
NM_001372066.1
p.P63P
c.189C>A
1 paper
NM_001372066.1
p.P66A
c.196C>G
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