Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.Y129Y

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
3 papers
NM_001372066.1
p.Y129Y
c.387C>T
Surrounding Variants
1 paper
NM_001372066.1
p.R131Q
c.392G>A
1 paper
NM_001372066.1
p.R127R
c.379A>C
1 paper
NM_001372066.1
p.E133*
c.397G>T
1 paper
NM_001372066.1
p.D124_P125del2
c.370_374del6
1 paper
NM_001372066.1
p.D124delFs
c.372delA
1 paper
NM_001372066.1
p.D134A
c.401A>C
1 paper
NM_001372066.1
p.L136L
c.406C>T
1 paper
NM_001372066.1
p.L136P
c.407T>C
1 paper
NM_001372066.1
p.L123L
c.367C>T
1 paper
NM_001372066.1
p.G122G
c.366C>T
1 paper
NM_001372066.1
p.G138D
c.413G>A
1 paper
NM_001372066.1
p.H140Y
c.418C>T
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