Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.V233_V236del0

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.V233_V236del0
c.697_708del12
Surrounding Variants
2 papers
NM_001372066.1
p.Q237E
c.709C>G
1 paper
NM_001032280.3
p.R230W
c.688C>T
1 paper
NM_001372066.1
p.E235K
c.703G>A
1 paper
NM_001372066.1
p.A234A
c.702G>C
1 paper
NM_001372066.1
p.A234T
c.700G>A
1 paper
NM_001372066.1
p.R239insFs
c.716_717insG
1 paper
NM_001032280.3
p.V223_V225del0
c.669_674del6
1 paper
NM_001372066.1
p.S241L
c.722C>T
1 paper
NM_001372066.1
p.S241delFs
c.723delT
1 paper
NM_001372066.1
p.P243L
c.728C>T
1 paper
NM_001042425.3
p.R233_P236del0
c.697_708del12
1 paper
NM_001032280.3
p.S233_E236del0
c.697_708del12
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