Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.G145fs

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.G145fs
c.433_434fs
Surrounding Variants
1 paper
NM_001372066.1
p.G145delFs
c.434delC
1 paper
NM_001042425.3
p.L140L
c.420C>T
1 paper
NM_001032280.3
p.D140D
c.420C>T
1 paper
NM_001372066.1
p.G145_D148delFs
c.434_443del10
1 paper
NM_001372066.1
p.L142H
c.425T>A
1 paper
NM_001372066.1
p.A141T
c.421G>A
1 paper
NM_001372066.1
p.S150S
c.450G>C
1 paper
NM_001372066.1
p.H140Y
c.418C>T
1 paper
NM_001372066.1
p.H152H
c.456C>T
1 paper
NM_001372066.1
p.G138D
c.413G>A
1 paper
NM_001372066.1
p.S153S
c.459C>T
2 papers
NM_001372066.1
p.L154L
c.460T>C
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