Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.T510fs

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.T510fs
c.1528_1529fs
Surrounding Variants
2 papers
NM_207037.2
p.T510insFs
c.1530dupA
1 paper
NM_207037.2
p.T510insFs
c.1528dupA
1 paper
NM_207037.2
p.V511fs
c.1531_1532fs
3 papers
NM_207037.2
p.L507R
c.1520T>G
1 paper
NM_207037.2
p.T513I
c.1538C>T
1 paper
NM_207037.2
p.S514delFs
c.1540delT
2 papers
NM_207037.2
p.S514_S515insFs
c.1540_1543dup4
2 papers
NM_207037.2
p.S514*
c.1541C>A
2 papers
NM_207037.2
p.S514*
c.1541C>G
1 paper
NM_207037.2
p.S514Fs
c.1542delinsAACFs
1 paper
NM_207037.2
p.S505*
c.1514C>A
2 papers
NM_207037.2
p.S505*
c.1514C>G
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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."