Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.E586K

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.E586K
c.1756G>A
Surrounding Variants
1 paper
NM_207037.2
p.S583fs
c.1747_1748fs
1 paper
NM_207037.2
p.D589V
c.1766A>T
2 papers
NM_207037.2
p.L590delFs
c.1769delT
1 paper
NM_207037.2
p.L590*
c.1769T>A
2 papers
NM_207037.2
p.P592S
c.1774C>T
1 paper
NM_207037.2
p.S582Splc
c.1746-8T>G
1 paper
NM_207037.2
p.Q594H
c.1782G>C
1 paper
NM_207037.2
p.I596T
c.1787T>C
2 papers
NM_207037.2
p.R598K
c.1793G>A
2 papers
NM_207037.2
p.E599_K600insFs
c.1796_1799dup4
1 paper
NM_207037.2
p.E601delFs
c.1801delG
2 papers
NM_207037.2
p.R602delFs
c.1806delG
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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."