Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.Q343R

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.Q343R
c.1028A>G
Surrounding Variants
1 paper
NM_003221.4
p.Q343E
c.1027C>G
1 paper
NM_003221.4
p.R342W
c.1024C>T
1 paper
NM_003221.4
p.T345K
c.1034C>A
1 paper
NM_003221.4
p.D346N
c.1036G>A
1 paper
NM_003221.4
p.L340F
c.1020G>C
1 paper
NM_003221.4
p.L340F
c.1020G>T
6 papers
NM_003221.4
p.V336I
c.1006G>A
1 paper
NM_003221.4
p.A333T
c.997G>A
1 paper
NM_003221.4
p.K354T
c.1061A>C
1 paper
NM_003221.4
p.P332H
c.995C>A
1 paper
NM_003221.4
p.P332L
c.995C>T
3 papers
NM_003221.4
p.P332S
c.994C>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."