Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.L109R

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.L109R
c.326T>G
Surrounding Variants
1 paper
NM_001372066.1
p.L110L
c.330G>C
1 paper
NM_001372066.1
p.S107S
c.321T>A
1 paper
NM_001372066.1
p.E106E
c.318G>A
1 paper
NM_001372066.1
p.Q105Q
c.315G>A
1 paper
NM_001372066.1
p.S104R
c.312C>G
1 paper
NM_001372066.1
p.G115E
c.344G>A
1 paper
NM_001372066.1
p.Q103L
c.308A>T
3 papers
NM_001372066.1
p.R102R
c.306G>A
1 paper
NM_001372066.1
p.Q101delFs
c.301_302delTG
1 paper
NM_001372066.1
p.H118Y
c.352C>T
1 paper
NM_001372066.1
p.G100C
c.298G>T
1 paper
NM_001372066.1
p.P99P
c.297C>T
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