Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2B
Variant:p.L414H

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.L414H
c.1241T>A
Surrounding Variants
1 paper
NM_003221.4
p.A413V
c.1238C>T
1 paper
NM_003221.4
p.T415M
c.1244C>T
4 papers
NM_003221.4
p.A413T
c.1237G>A
1 paper
NM_003221.4
p.A416D
c.1247C>A
1 paper
NM_003221.4
p.A416V
c.1247C>T
1 paper
NM_003221.4
p.P408L
c.1223C>T
1 paper
NM_003221.4
p.P408T
c.1222C>A
1 paper
NM_003221.4
p.A407T
c.1219G>A
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.A424V
c.1271C>T
1 paper
NM_003221.4
p.G404D
c.1211G>A
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