Varaico: Literature-Extracted Genetic Variants

Gene:TFAP4
Variant:p.F68C

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.F68C
c.203T>G
Surrounding Variants
1 paper
NM_003223.3
p.L71F
c.211C>T
1 paper
NM_003223.3
p.N65Y
c.193A>T
1 paper
NM_003223.3
p.I64M
c.192C>G
4 papers
NM_003223.3
p.R60C
c.178C>T
5 papers
NM_003223.3
p.R58P
c.173G>C
2 papers
NM_003223.3
p.R58W
c.172C>T
2 papers
NM_003223.3
p.R50W
c.148C>T
1 paper
NM_003223.3
p.R42W
c.124C>T
1 paper
NM_003223.3
p.P35P
c.105A>G
2 papers
NM_003223.3
p.T104delFs
c.311delG
1 paper
NM_003223.3
p.K114R
c.341A>G
2 papers
NM_003223.3
p.R115H
c.344G>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."