Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.S258fs

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.S258fs
c.772_773fs
Surrounding Variants
1 paper
NM_207037.2
p.S258F
c.773C>T
1 paper
NM_207037.2
p.T257I
c.770C>T
5 papers
NM_207037.2
p.M260delFs
c.778_779delAT
1 paper
NM_207037.2
p.M260fs
c.778_779fs
3 papers
NM_207037.2
p.M260fs
c.778_779fs
1 paper
NM_207037.2
p.Q262delFs
c.785delA
1 paper
NM_207037.2
p.L253M
c.757C>A
1 paper
NM_207037.2
p.F249insFs
c.747dupT
1 paper
NM_207037.2
p.Q246*
c.736C>T
2 papers
NM_207037.2
p.S271*
c.812C>A
1 paper
NM_207037.2
p.S271*
c.812C>G
1 paper
NM_207037.2
p.M244I
c.732G>A
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