Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.R611C

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.R611C
c.1831C>T
Surrounding Variants
1 paper
NM_207037.2
p.R611H
c.1832G>A
3 papers
NM_207037.2
p.E610K
c.1828G>A
2 papers
NM_207037.2
p.L612insFs
c.1836dupA
1 paper
NM_207037.2
p.L612L
c.1836A>G
1 paper
NM_207037.2
p.R613fs
c.1837_1838fs
3 papers
NM_207037.2
p.R613H
c.1838G>A
1 paper
NM_207037.2
p.R613R
c.1839C>T
1 paper
NM_207037.2
p.V614M
c.1840G>A
1 paper
NM_207037.2
p.R615W
c.1843C>T
1 paper
NM_207037.2
p.N606N
c.1818C>T
1 paper
NM_207037.2
p.R615Q
c.1844G>A
1 paper
NM_207037.2
p.N606H
c.1816A>C
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