Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.I291I

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
1 paper
NM_003221.4
p.I291I
c.873C>A
Surrounding Variants
3 papers
NM_003221.4
p.A297T
c.889G>A
1 paper
NM_003221.4
p.A297V
c.890C>T
4 papers
NM_003221.4
p.R285Q
c.854G>A
1 paper
NM_003221.4
p.R299G
c.895A>G
2 papers
NM_003221.4
p.L284S
c.851T>C
2 papers
NM_003221.4
p.R300C
c.898C>T
1 paper
NM_003221.4
p.R300H
c.899G>A
1 paper
NM_003221.4
p.R282G
c.844A>G
1 paper
NM_003221.4
p.G280E
c.839G>A
1 paper
NM_003221.4
p.A303T
c.907G>A
1 paper
NM_003221.4
p.N304H
c.910A>C
1 paper
NM_003221.4
p.S277W
c.830C>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."