Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.L630fs

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.L630fs
c.1888_1889fs
Surrounding Variants
3 papers
NM_207037.2
p.H631Q
c.1893C>A
3 papers
NM_207037.2
p.H631Q
c.1893C>G
1 paper
NM_207040.2
p.L438fs
c.1312_1313fs
1 paper
NM_207037.2
p.R626Q
c.1877G>A
2 papers
NM_207037.2
p.R626*
c.1876C>T
2 papers
NM_207037.2
p.L624P
c.1871T>C
1 paper
NM_207037.2
p.L624R
c.1871T>G
1 paper
NM_207037.2
p.L624F
c.1870C>T
2 papers
NM_207037.2
p.K636R
c.1907A>G
1 paper
NM_207037.2
p.E623*
c.1867G>T
3 papers
NM_207037.2
p.Q638E
c.1912C>G
1 paper
NM_207037.2
p.F621L
c.1863C>A
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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."