Varaico: Literature-Extracted Genetic Variants

Gene:ID3
Variant:p.K30T

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.K30T
c.89A>C
Surrounding Variants
1 paper
NM_002167.5
p.A13_G29delFs
c.38_86del49
1 paper
NM_002167.5
p.R28insFs
c.82dupC
1 paper
NM_002167.5
p.P32Q
c.95C>A
1 paper
NM_002167.5
p.R26Q
c.77G>A
1 paper
NM_002167.5
p.E35Q
c.103G>C
1 paper
NM_002167.5
p.E36K
c.106G>A
1 paper
NM_002167.5
p.P37L
c.110C>T
1 paper
NM_002167.5
p.A23D
c.68C>A
1 paper
NM_002167.5
p.L22_A23ins4
c.66_67ins12
2 papers
NM_002167.5
p.L38P
c.113T>C
2 papers
NM_002167.5
p.L22P
c.65T>C
1 paper
NM_002167.5
p.S39fs
c.115_116fs
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