Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2C
Variant:p.Q178_N179Splc

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.Q178_N179Splc
c.534+12T>C
Surrounding Variants
1 paper
NM_003222.4
p.V177V
c.531G>A
1 paper
NM_003222.4
p.M174I
c.522G>A
2 papers
NM_003222.4
p.L167F
c.499C>T
1 paper
NM_003222.4
p.A159P
c.475G>C
1 paper
NM_003222.4
p.D157E
c.471T>A
1 paper
NM_003222.4
p.V180A
c.539T>C
1 paper
NM_003222.4
p.D181Y
c.541G>T
2 papers
NM_003222.4
p.R145C
c.433C>T
1 paper
NM_003222.4
p.L186_L187insGTT
c.556_560ins9
1 paper
NM_003222.4
p.R120H
c.359G>A
1 paper
NM_003222.4
p.H117L
c.350A>T
1 paper
NM_003222.4
p.G97D
c.290G>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."