Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2C
Variant:p.E13D

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.E13D
c.39G>T
Surrounding Variants
1 paper
NM_003222.4
p.E13D
c.39G>C
1 paper
NM_003222.4
p.T6P
c.16A>C
1 paper
NM_003222.4
p.M1I
c.3G>A
1 paper
NM_003222.4
p.E16_D17Splc
c.49-6C>T
1 paper
NM_003222.4
p.D17insFs
c.50dupA
1 paper
NM_003222.4
p.D20Y
c.58G>T
1 paper
NM_003222.4
p.R28Q
c.83G>A
1 paper
NM_003222.4
p.R28L
c.83G>T
1 paper
NM_003222.4
p.H31P
c.92A>C
1 paper
NM_003222.4
p.S33T
c.97T>A
1 paper
NM_003222.4
p.Q37H
c.111G>T
1 paper
NM_003222.4
p.P44S
c.130C>T
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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."