Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.D429Y

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.D429Y
c.1285G>T
Surrounding Variants
1 paper
NM_003221.4
p.A424V
c.1271C>T
1 paper
NM_003221.4
p.N435_T436del2
c.1303_1307del6
1 paper
NM_003221.4
p.E423D
c.1269G>C
1 paper
NM_003221.4
p.E423D
c.1269G>T
1 paper
NM_003221.4
p.N435_T436del1
c.1305_1307delCAC
1 paper
NM_003221.4
p.T436P
c.1306A>C
1 paper
NM_003221.4
p.T436I
c.1307C>T
1 paper
NM_003221.4
p.T437A
c.1309A>G
1 paper
NM_003221.4
p.T437I
c.1310C>T
1 paper
NM_003221.4
p.N439K
c.1317C>A
1 paper
NM_003221.4
p.N439K
c.1317C>G
1 paper
NM_003221.4
p.A416D
c.1247C>A
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