Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.I456fs

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.I456fs
c.1366_1367fs
Surrounding Variants
1 paper
NM_207037.2
p.I456insFs
c.1366_1367ins13
1 paper
NM_207037.2
p.I456fs
c.1366_1367fs
2 papers
NM_207037.2
p.I456insFs
c.1366dupA
1 paper
NM_207037.2
p.D455fs
c.1363_1364fs
1 paper
NM_207037.2
p.D455Y
c.1363G>T
2 papers
NM_207037.2
p.L459*
c.1376T>A
3 papers
NM_207037.2
p.L459*
c.1376T>G
1 paper
NM_207037.2
p.P450fs
c.1348_1349fs
1 paper
NM_207037.2
p.P450delFs
c.1349delC
1 paper
NM_207037.2
p.N465_L471del7
c.1393_1412del21
1 paper
NM_207037.2
p.N465_A466ins4
c.1393_1397ins12
1 paper
NM_207037.2
p.N465_A466ins8
c.1393_1397ins24
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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."