Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.S295P

TCF12

258 papers

RefSeq Summary

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many ...

Pfam Domains

HLHaa 578–631UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

transcription factor 12

HGNC Alias Symbols

HEB; HTF4; HsT17266; bHLHb20; p64

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207037.2
p.S295P
c.883T>C
Surrounding Variants
1 paper
NM_207037.2
p.H298D
c.892C>G
1 paper
NM_207037.2
p.R299G
c.895C>G
1 paper
NM_207037.2
p.R299C
c.895C>T
1 paper
NM_207037.2
p.R299H
c.896G>A
1 paper
NM_207037.2
p.R299R
c.897C>T
5 papers
NM_207037.2
p.G300S
c.898G>A
1 paper
NM_207037.2
p.S290_L291del2
c.868_872del6
1 paper
NM_207037.2
p.I287T
c.860T>C
1 paper
NM_207037.2
p.I287_N288delFs
c.859_862del4
1 paper
NM_207037.2
p.D286G
c.857A>G
1 paper
NM_207037.2
p.Y307N
c.919T>A
1 paper
NM_207037.2
p.Y307insFs
c.920dupA
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