Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.G97D

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.G97D
c.290G>A
Surrounding Variants
1 paper
NM_001372066.1
p.G97V
c.290G>T
1 paper
NM_001372066.1
p.P96T
c.286C>A
2 papers
NM_001372066.1
p.P99S
c.295C>T
1 paper
NM_001372066.1
p.H95P
c.284A>C
1 paper
NM_001372066.1
p.H95insFs
c.284_285insCT
1 paper
NM_001372066.1
p.P99P
c.297C>T
1 paper
NM_001372066.1
p.G100C
c.298G>T
1 paper
NM_001372066.1
p.Q94E
c.280C>G
1 paper
NM_001372066.1
p.Q101delFs
c.301_302delTG
3 papers
NM_001372066.1
p.R102R
c.306G>A
2 papers
NM_001042425.3
p.P85insFs
c.253dupC
1 paper
NM_001372066.1
p.P91P
c.273G>A
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