Varaico: Literature-Extracted Genetic Variants

Gene:ID3
Variant:p.S116C

ID3

150 papers

RefSeq Summary

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inh...

Pfam Domains

HLHaa 39–81UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

inhibitor of DNA binding 3

HGNC Alias Symbols

HEIR-1; bHLHb25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002167.5
p.S116C
c.346A>T
Surrounding Variants
2 papers
NM_002167.5
p.S116N
c.347G>A
1 paper
NM_002167.5
p.D113N
c.337G>A
1 paper
NM_002167.5
p.H119Y
c.355C>T
1 paper
NM_002167.5
p.S111insFs
c.331_332insG
20 papers
NM_002167.5
p.T105A
c.313A>G
1 paper
NM_002167.5
p.E103_L104delFs
c.309_312del4
2 papers
NM_002167.5
p.L104F
c.310C>T
2 papers
NM_002167.5
p.E103D
c.309G>T
2 papers
NM_002167.5
p.E103D
c.309G>C
1 paper
NM_002167.5
p.A102V
c.305C>T
1 paper
NM_002167.5
p.Q100_T101Splc
c.301-1G>C
1 paper
NM_002167.5
p.Q100_T101Splc
c.301-1G>A
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