Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A

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
1–12 of 278 variants
5 papers
NM_001372066.1
p.E296K
c.886G>A
3 papers
NM_001372066.1
p.P62R
c.185C>G
3 papers
NM_001372066.1
p.R102R
c.306G>A
3 papers
NM_001372066.1
p.Y129Y
c.387C>T
3 papers
NM_001372066.1
p.E160K
c.478G>A
3 papers
NM_001372066.1
p.R256Q
c.767G>A
2 papers
NM_001372066.1
p.M1K
c.2T>A
2 papers
NM_001372066.1
p.M1I
c.3G>A
2 papers
NM_001372066.1
p.M3I
c.9G>A
2 papers
NM_001372066.1
p.G26R
c.76G>A
2 papers
NM_001372066.1
p.L33P
c.98T>C
2 papers
NM_001372066.1
p.T35N
c.104C>A
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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."