Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.A647T

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.A647T
c.1939G>A
Surrounding Variants
1 paper
NM_207037.2
p.A647G
c.1940C>G
2 papers
NM_207037.2
p.Q646*
c.1936C>T
1 paper
NM_207037.2
p.V650D
c.1949T>A
2 papers
NM_207037.2
p.E655*
c.1963G>T
3 papers
NM_207037.2
p.Q638E
c.1912C>G
2 papers
NM_207037.2
p.K636R
c.1907A>G
1 paper
NM_207037.2
p.V658A
c.1973T>C
1 paper
NM_207040.2
p.L438fs
c.1312_1313fs
3 papers
NM_207037.2
p.H631Q
c.1893C>A
3 papers
NM_207037.2
p.H631Q
c.1893C>G
1 paper
NM_207037.2
p.L630fs
c.1888_1889fs
1 paper
NM_207037.2
p.R626Q
c.1877G>A
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