Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2D
Variant:p.L253F

TFAP2D

40 papers

Pfam Domains

TF_AP-2aa 211–405UCSCTranscription factor AP-2

Gene Aliases

HGNC Name

transcription factor AP-2 delta

HGNC Previous Symbol

TFAP2BL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172238.4
p.L253F
c.759G>C
Surrounding Variants
1 paper
NM_172238.4
p.L253F
c.759G>T
1 paper
NM_172238.4
p.R255G
c.763A>G
1 paper
NM_172238.4
p.G250R
c.748G>A
1 paper
NM_172238.4
p.G250R
c.748G>C
1 paper
NM_172238.4
p.A246V
c.737C>T
1 paper
NM_172238.4
p.A246S
c.736G>T
1 paper
NM_172238.4
p.P240Q
c.719C>A
1 paper
NM_172238.4
p.L238F
c.712C>T
1 paper
NM_172238.4
p.R237H
c.710G>A
1 paper
NM_172238.4
p.E233D
c.699G>C
1 paper
NM_172238.4
p.E233D
c.699G>T
1 paper
NM_172238.4
p.V229V
c.687G>T
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