Varaico: Literature-Extracted Genetic Variants

Gene:TFAP4
Variant:p.I272I

TFAP4

128 papers

RefSeq Summary

Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcr...

Pfam Domains

HLHaa 49–100UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor AP-4

HGNC Alias Symbols

AP-4; bHLHc41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003223.3
p.I272I
c.816C>T
Surrounding Variants
1 paper
NM_003223.3
p.S263F
c.788C>T
1 paper
NM_003223.3
p.H246H
c.738C>T
1 paper
NM_003223.3
p.T234T
c.702G>A
1 paper
NM_003223.3
p.H232P
c.695A>C
1 paper
NM_003223.3
p.H231P
c.692A>C
5 papers
NM_003223.3
p.T230P
c.688A>C
2 papers
NM_003223.3
p.Q222delFs
c.664delG
1 paper
NM_003223.3
p.Q218H
c.654G>T
1 paper
NM_003223.3
p.Q218H
c.654G>C
1 paper
NM_003223.3
p.Q200L
c.599A>T
1 paper
NM_003223.3
p.Q198L
c.593A>T
1 paper
NM_003223.3
p.A192A
c.576G>A
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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."