Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.R257G

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
2 papers
NM_001372066.1
p.R257G
c.769A>G
NM_001032280.3
p.R249G
c.745A>G
NM_001042425.3
p.R251G
c.751A>G
Surrounding Variants
1 paper
NM_001372066.1
p.R256L
c.767G>T
3 papers
NM_001372066.1
p.R256Q
c.767G>A
1 paper
NM_001372066.1
p.L255L
c.765C>T
1 paper
NM_001372066.1
p.G252V
c.755G>T
1 paper
NM_001372066.1
p.S249L
c.746C>T
1 paper
NM_001372066.1
p.A248V
c.743C>T
1 paper
NM_001372066.1
p.A248P
c.742G>C
1 paper
NM_001372066.1
p.N247N
c.741C>T
1 paper
NM_001032280.3
p.S233_E236del0
c.697_708del12
1 paper
NM_001372066.1
p.P243L
c.728C>T
1 paper
NM_001042425.3
p.R233_P236del0
c.697_708del12
1 paper
NM_001372066.1
p.S241delFs
c.723delT
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