Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.R598K

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.R598K
c.1793G>A
Surrounding Variants
2 papers
NM_207037.2
p.E599_K600insFs
c.1796_1799dup4
1 paper
NM_207037.2
p.E601delFs
c.1801delG
1 paper
NM_207037.2
p.I596T
c.1787T>C
2 papers
NM_207037.2
p.R602delFs
c.1806delG
1 paper
NM_207037.2
p.R602fs
c.1804_1805fs
1 paper
NM_207037.2
p.Q594H
c.1782G>C
1 paper
NM_207037.2
p.R602K
c.1805G>A
1 paper
NM_207037.2
p.R602M
c.1805G>T
5 papers
NM_207037.2
p.R603W
c.1807C>T
3 papers
NM_207037.2
p.R603Q
c.1808G>A
2 papers
NM_207037.2
p.P592S
c.1774C>T
1 paper
NM_207037.2
p.A605_A608del4
c.1813_1823del12
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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."