Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.G172D

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.G172D
c.515G>A
Surrounding Variants
1 paper
NM_003221.4
p.L171insFs
c.512_513insGC
1 paper
NM_003221.4
p.G170C
c.508G>T
1 paper
NM_003221.4
p.D159H
c.475G>C
1 paper
NM_003221.4
p.A154T
c.460G>A
1 paper
NM_003221.4
p.L150L
c.450G>C
1 paper
NM_003221.4
p.R145_R146delFs
c.435_436delCC
1 paper
NM_003221.4
p.R145C
c.433C>T
5 papers
NM_003221.4
p.R145_R146delFs
c.435_438del4
1 paper
NM_003221.4
p.D136V
c.407A>T
1 paper
NM_003221.4
p.D136H
c.406G>C
1 paper
NM_003221.4
p.A128S
c.382G>T
1 paper
NM_003221.4
p.L122V
c.364C>G
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