Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.S76S

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.S76S
c.228C>T
Surrounding Variants
1 paper
NM_001372066.1
p.V78A
c.233T>C
1 paper
NM_001372066.1
p.P74S
c.220C>T
2 papers
NM_001372066.1
p.D80N
c.238G>A
1 paper
NM_001372066.1
p.S71S
c.213G>A
1 paper
NM_001372066.1
p.Q70L
c.209A>T
2 papers
NM_001372066.1
p.N85D
c.253A>G
1 paper
NM_001372066.1
p.Y68D
c.202T>G
1 paper
NM_001372066.1
p.N85S
c.254A>G
1 paper
NM_001372066.1
p.I67T
c.200T>C
1 paper
NM_001372066.1
p.P86A
c.256C>G
1 paper
NM_001372066.1
p.L87L
c.259C>T
1 paper
NM_001372066.1
p.P66A
c.196C>G
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