Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.E113D

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
3 papers
NM_207037.2
p.E113D
c.339G>C
Surrounding Variants
2 papers
NM_207037.2
p.E113D
c.339G>T
1 paper
NM_207037.2
p.R114G
c.340A>G
1 paper
NM_207037.2
p.R114K
c.341G>A
1 paper
NM_207037.2
p.K110I
c.329A>T
1 paper
NM_207037.2
p.L119delFs
c.356delT
1 paper
NM_207037.2
p.L119fs
c.355_356fs
1 paper
NM_207037.2
p.L119P
c.356T>C
1 paper
NM_207037.2
p.Y120H
c.358T>C
1 paper
NM_207037.2
p.Y120C
c.359A>G
1 paper
NM_207037.2
p.Y120*
c.360C>A
1 paper
NM_207037.2
p.D123D
c.369T>C
1 paper
NM_207037.2
p.P127T
c.379C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."