Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.L214H

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_001032280.3
p.L214H
c.641T>A
Surrounding Variants
1 paper
NM_001042425.3
p.L217I
c.649C>A
1 paper
NM_001042425.3
p.L214H
c.641T>A
1 paper
NM_001372066.1
p.L220delFs
c.658delG
1 paper
NM_001372066.1
p.C214_R219insFs
c.640_656dup17
1 paper
NM_001372066.1
p.C214_R219delFs
c.640_656del17
1 paper
NM_001372066.1
p.S225F
c.674C>T
1 paper
NM_001032280.3
p.R211S
c.631C>A
NM_001042425.3
p.R213S
c.637C>A
1 paper
NM_001372066.1
p.T226I
c.677C>T
1 paper
NM_001372066.1
p.P217R
c.650C>G
1 paper
NM_001372066.1
p.P217S
c.649C>T
2 papers
NM_001042425.3
p.P211T
c.631C>A
NM_001372066.1
p.P217T
c.649C>A
1 paper
NM_001032280.3
p.V208D
c.623T>A
NM_001042425.3
p.V210D
c.629T>A
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