Varaico: Literature-Extracted Genetic Variants

Gene:TFAP4
Variant:p.T312T

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
12 papers
NM_003223.3
p.T312T
c.936C>T
Surrounding Variants
1 paper
NM_003223.3
p.T309I
c.926C>T
1 paper
NM_003223.3
p.S319P
c.955T>C
1 paper
NM_003223.3
p.R328W
c.982C>T
2 papers
NM_003223.3
p.P331S
c.991C>T
1 paper
NM_003223.3
p.D334A
c.1001A>C
1 paper
NM_003223.3
p.P338S
c.1012C>T
1 paper
NM_003223.3
p.E284E
c.852A>G
1 paper
NM_003223.3
p.E280G
c.839A>G
1 paper
NM_003223.3
p.I272I
c.816C>T
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
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