Varaico: Literature-Extracted Genetic Variants

Gene:TCF12

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
1–12 of 447 variants
6 papers
NM_207037.2
p.S497insFs
c.1491dupT
5 papers
NM_207037.2
p.M260delFs
c.778_779delAT
5 papers
NM_207037.2
p.G300S
c.898G>A
5 papers
NM_207037.2
p.M489_V490Splc
c.1468-20T>A
5 papers
NM_207037.2
p.V498fs
c.1492_1493fs
5 papers
NM_207037.2
p.R603W
c.1807C>T
4 papers
NM_207037.2
p.Y307*
c.921C>A
4 papers
NM_207037.2
p.Y307*
c.921C>G
4 papers
NM_207037.2
p.R423*
c.1267C>T
3 papers
NM_207037.2
p.R74G
c.220A>G
3 papers
NM_207037.2
p.E113D
c.339G>C
3 papers
NM_207037.2
p.M260fs
c.778_779fs
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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."