Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2C
Variant:p.S260L

TFAP2C

66 papers

RefSeq Summary

The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or...

Pfam Domains

TF_AP-2aa 224–419UCSCTranscription factor AP-2

Gene Aliases

HGNC Name

transcription factor AP-2 gamma

HGNC Alias Symbols

AP2-GAMMA; ERF1; TFAP2G; hAP-2g

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003222.4
p.S260L
c.779C>T
Surrounding Variants
1 paper
NM_003222.4
p.V217I
c.649G>A
1 paper
NM_003222.4
p.G275A
c.824G>C
1 paper
NM_003222.4
p.G292insFs
c.874_875insA
1 paper
NM_003222.4
p.A297T
c.889G>A
2 papers
NM_003222.4
p.L305F
c.915A>C
2 papers
NM_003222.4
p.L305F
c.915A>T
1 paper
NM_003222.4
p.G308D
c.923G>A
1 paper
NM_003222.4
p.L186_L187insGTT
c.556_560ins9
1 paper
NM_003222.4
p.D181Y
c.541G>T
1 paper
NM_003222.4
p.V180A
c.539T>C
1 paper
NM_003222.4
p.Q178_N179Splc
c.534+12T>C
1 paper
NM_003222.4
p.V177V
c.531G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."