Varaico: Literature-Extracted Genetic Variants

Gene:TCF12
Variant:p.R74R

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.R74R
c.220A>C
Surrounding Variants
3 papers
NM_207037.2
p.R74G
c.220A>G
1 paper
NM_207037.2
p.R74K
c.221G>A
1 paper
NM_207037.2
p.D71N
c.211G>A
1 paper
NM_207037.2
p.Y70fs
c.208_209fs
1 paper
NM_207037.2
p.S69delFs
c.207delC
1 paper
NM_207037.2
p.P68L
c.203C>T
1 paper
NM_207037.2
p.G64S
c.190G>A
1 paper
NM_207037.2
p.G64R
c.190G>C
1 paper
NM_207037.2
p.S63C
c.187A>T
1 paper
NM_207037.2
p.T62I
c.185C>T
1 paper
NM_207037.2
p.T62A
c.184A>G
2 papers
NM_207037.2
p.G55R
c.163G>A
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