Varaico: Literature-Extracted Genetic Variants

Gene:TFAP4
Variant:p.S123A

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.S123A
c.367T>G
Surrounding Variants
1 paper
NM_003223.3
p.R127*
c.379C>T
1 paper
NM_003223.3
p.Q118_E119Splc
c.355-1G>T
1 paper
NM_003223.3
p.A130V
c.389C>T
1 paper
NM_003223.3
p.D132A
c.395A>C
1 paper
NM_003223.3
p.E135K
c.403G>A
1 paper
NM_003223.3
p.E135A
c.404A>C
1 paper
NM_003223.3
p.S139A
c.415T>G
1 paper
NM_003223.3
p.P140P
c.420G>A
1 paper
NM_003223.3
p.E144K
c.430G>A
1 paper
NM_003223.3
p.A148P
c.442G>C
1 paper
NM_003223.3
p.E154E
c.462G>A
2 papers
NM_003223.3
p.D163ins1
c.487_488insTAT
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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."