Varaico: Literature-Extracted Genetic Variants

Gene:ID3
Variant:p.S49T

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
3 papers
NM_002167.5
p.S49T
c.145T>A
Surrounding Variants
1 paper
NM_002167.5
p.S49P
c.145T>C
6 papers
NM_002167.5
p.Y48*
c.144C>G
1 paper
NM_002167.5
p.Y48fs
c.142_143fs
6 papers
NM_002167.5
p.Y48*
c.144C>A
1 paper
NM_002167.5
p.Y48C
c.143A>G
1 paper
NM_002167.5
p.Y48S
c.143A>C
1 paper
NM_002167.5
p.Y48H
c.142T>C
1 paper
NM_002167.5
p.Y48N
c.142T>A
1 paper
NM_002167.5
p.D43_C47insFs
c.128_140dup13
1 paper
NM_002167.5
p.C47fs
c.139_140fs
3 papers
NM_002167.5
p.C47*
c.141C>A
1 paper
NM_002167.5
p.D42_C47delFs
c.124_140del17
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