Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.L154S

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.L154S
c.461T>C
Surrounding Variants
2 papers
NM_001372066.1
p.L154L
c.460T>C
1 paper
NM_001372066.1
p.S153S
c.459C>T
1 paper
NM_001372066.1
p.P155L
c.464C>T
1 paper
NM_001372066.1
p.H152H
c.456C>T
1 paper
NM_001372066.1
p.S150S
c.450G>C
3 papers
NM_001372066.1
p.E160K
c.478G>A
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.E160G
c.479A>G
1 paper
NM_001372066.1
p.E160A
c.479A>C
1 paper
NM_001042425.3
p.L140L
c.420C>T
1 paper
NM_001372066.1
p.G145fs
c.433_434fs
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