Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.P31L

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.P31L
c.92C>T
Surrounding Variants
1 paper
NM_001372066.1
p.P31S
c.91C>T
1 paper
NM_001372066.1
p.L30F
c.90G>C
1 paper
NM_001372066.1
p.L30L
c.90G>A
1 paper
NM_001372066.1
p.Q32*
c.94C>T
1 paper
NM_001372066.1
p.Q32H
c.96G>C
1 paper
NM_001372066.1
p.L33R
c.98T>G
2 papers
NM_001372066.1
p.L33P
c.98T>C
1 paper
NM_001372066.1
p.G34D
c.101G>A
1 paper
NM_001372066.1
p.A28G
c.83C>G
1 paper
NM_001372066.1
p.T27T
c.81G>T
1 paper
NM_001372066.1
p.T35A
c.103A>G
2 papers
NM_001372066.1
p.T35N
c.104C>A
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