Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.K261E

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_001042425.3
p.K255E
c.763A>G
Surrounding Variants
1 paper
NM_001372066.1
p.S260F
c.779C>T
1 paper
NM_001372066.1
p.S260P
c.778T>C
1 paper
NM_001032280.3
p.K251E
c.751A>G
1 paper
NM_001042425.3
p.R251G
c.751A>G
NM_001032280.3
p.R249G
c.745A>G
1 paper
NM_001372066.1
p.R265insFs
c.794dupG
1 paper
NM_001372066.1
p.L267F
c.801A>T
1 paper
NM_001372066.1
p.L267F
c.801A>C
1 paper
NM_001372066.1
p.R268I
c.803G>T
1 paper
NM_001372066.1
p.L271P
c.812T>C
1 paper
NM_001372066.1
p.L276S
c.827T>C
1 paper
NM_001372066.1
p.G281E
c.842G>A
1 paper
NM_001372066.1
p.R282G
c.844A>G
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