Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.S497delFs

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.S497delFs
c.1490_1491delCT
Surrounding Variants
1 paper
NM_207037.2
p.D496Y
c.1486G>T
1 paper
NM_207037.2
p.S497fs
c.1489_1490fs
1 paper
NM_207037.2
p.S497fs
c.1489_1490fs
6 papers
NM_207037.2
p.S497insFs
c.1491dupT
5 papers
NM_207037.2
p.V498fs
c.1492_1493fs
1 paper
NM_207037.2
p.R494G
c.1480C>G
1 paper
NM_207037.2
p.V490fs
c.1468_1469fs
1 paper
NM_207037.2
p.N503S
c.1508A>G
1 paper
NM_207037.2
p.N503N
c.1509T>C
2 papers
NM_207037.2
p.M489_V490Splc
c.1468-7A>G
1 paper
NM_207037.2
p.S505*
c.1514C>A
2 papers
NM_207037.2
p.S505*
c.1514C>G
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