Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.Y13*

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.Y13*
c.39C>A
Surrounding Variants
1 paper
NM_001372066.1
p.K12N
c.36G>T
1 paper
NM_001372066.1
p.D15D
c.45C>T
1 paper
NM_001372066.1
p.E17D
c.51G>T
1 paper
NM_001372066.1
p.E17E
c.51G>A
1 paper
NM_001372066.1
p.D9N
c.25G>A
1 paper
NM_001372066.1
p.W5*
c.14G>A
1 paper
NM_001372066.1
p.L4H
c.11T>A
1 paper
NM_001372066.1
p.M3I
c.9G>T
2 papers
NM_001372066.1
p.M3I
c.9G>A
1 paper
NM_001372066.1
p.M1insFs
c.2dupT
2 papers
NM_001372066.1
p.M1I
c.3G>A
2 papers
NM_001372066.1
p.M1K
c.2T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."