Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.R485*

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
2 papers
NM_207037.2
p.R485*
c.1453C>T
Surrounding Variants
3 papers
NM_207037.2
p.R485Q
c.1454G>A
1 paper
NM_207037.2
p.R485P
c.1454G>C
1 paper
NM_207037.2
p.S484_R485insA
c.1450_1454ins3
1 paper
NM_207037.2
p.A482V
c.1445C>T
1 paper
NM_207037.2
p.M489_V490Splc
c.1467+1G>C
1 paper
NM_207037.2
p.N474fs
c.1420_1421fs
1 paper
NM_207037.2
p.S473*
c.1418C>A
1 paper
NM_207037.2
p.S473*
c.1418C>G
1 paper
NM_207037.2
p.A466T
c.1396G>A
1 paper
NM_207037.2
p.N465_A466ins4
c.1393_1397ins12
1 paper
NM_207037.2
p.N465_A466ins8
c.1393_1397ins24
1 paper
NM_207037.2
p.N465_L471del7
c.1393_1412del21
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."