Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.E524fs

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.E524fs
c.1570_1571fs
Surrounding Variants
1 paper
NM_207037.2
p.E524_N525delFs
c.1571_1575del5
1 paper
NM_207040.2
p.T328A
c.982A>G
1 paper
NM_207037.2
p.K521E
c.1561A>G
1 paper
NM_207037.2
p.H520Q
c.1560T>A
1 paper
NM_207037.2
p.H520Q
c.1560T>G
2 papers
NM_207037.2
p.G528Splc
c.1582+1G>A
2 papers
NM_207037.2
p.G528Splc
c.1582+2T>G
1 paper
NM_207037.2
p.T516fs
c.1546_1547fs
1 paper
NM_207037.2
p.S515fs
c.1543_1544fs
1 paper
NM_207037.2
p.S514Fs
c.1542delinsAACFs
2 papers
NM_207037.2
p.S514*
c.1541C>A
2 papers
NM_207037.2
p.S514*
c.1541C>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."