Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.R236C

TFAP2B

106 papers

RefSeq Summary

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to st...

Pfam Domains

TF_AP-2aa 230–424UCSCTranscription factor AP-2

Gene Aliases

HGNC Name

transcription factor AP-2 beta

HGNC Alias Symbols

AP2-B; AP-2beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003221.4
p.R236C
c.706C>T
Surrounding Variants
3 papers
NM_003221.4
p.R236S
c.706C>A
1 paper
NM_003221.4
p.L239M
c.715C>A
1 paper
NM_003221.4
p.L239insFs
c.716_717insG
1 paper
NM_003221.4
p.S241R
c.721A>C
1 paper
NM_003221.4
p.S241I
c.722G>T
1 paper
NM_003221.4
p.S241R
c.723T>A
1 paper
NM_003221.4
p.S241R
c.723T>G
1 paper
NM_003221.4
p.S242A
c.724T>G
1 paper
NM_003221.4
p.S244L
c.731C>T
1 paper
NM_003221.4
p.M222V
c.664A>G
1 paper
NM_003221.4
p.G217A
c.650G>C
1 paper
NM_003221.4
p.R255G
c.763A>G
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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."