Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.Y307*

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
4 papers
NM_207037.2
p.Y307*
c.921C>G
Surrounding Variants
4 papers
NM_207037.2
p.Y307*
c.921C>A
1 paper
NM_207037.2
p.Y307N
c.919T>A
1 paper
NM_207037.2
p.Y307insFs
c.920dupA
1 paper
NM_207037.2
p.S311*
c.932C>A
1 paper
NM_207037.2
p.S311*
c.932C>G
1 paper
NM_207037.2
p.T313_N317del5
c.937_950del15
1 paper
NM_207037.2
p.T313N
c.938C>A
5 papers
NM_207037.2
p.G300S
c.898G>A
1 paper
NM_207037.2
p.R299R
c.897C>T
1 paper
NM_207037.2
p.R299H
c.896G>A
1 paper
NM_207037.2
p.R299G
c.895C>G
1 paper
NM_207037.2
p.R299C
c.895C>T
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