Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2C
Variant:p.C389Y

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.C389Y
c.1166G>A
Surrounding Variants
1 paper
NM_003222.4
p.A379T
c.1135G>A
1 paper
NM_003222.4
p.Q403H
c.1209G>C
1 paper
NM_003222.4
p.Q403H
c.1209G>T
1 paper
NM_003222.4
p.R370L
c.1109G>T
1 paper
NM_003222.4
p.K425N
c.1275A>C
1 paper
NM_003222.4
p.K425N
c.1275A>T
1 paper
NM_003222.4
p.K349R
c.1046A>G
1 paper
NM_003222.4
p.E344K
c.1030G>A
1 paper
NM_003222.4
p.L339F
c.1015C>T
1 paper
NM_003222.4
p.T335S
c.1004C>G
1 paper
NM_003222.4
p.T335S
c.1003A>T
1 paper
NM_003222.4
p.E332*
c.994G>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."