Varaico: Literature-Extracted Genetic Variants

Gene:ID3
Variant:p.L64F

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
21 papers
NM_002167.5
p.L64F
c.190C>T
Surrounding Variants
3 papers
NM_002167.5
p.L64V
c.190C>G
3 papers
NM_002167.5
p.L64R
c.191T>G
3 papers
NM_002167.5
p.L64H
c.191T>A
1 paper
NM_002167.5
p.L64delFs
c.190delG
3 papers
NM_002167.5
p.Q63H
c.189G>T
3 papers
NM_002167.5
p.Q63H
c.189G>C
1 paper
NM_002167.5
p.L64fs
c.190_191fs
2 papers
NM_002167.5
p.Q63*
c.187C>T
1 paper
NM_002167.5
p.S65R
c.193A>C
1 paper
NM_002167.5
p.S65S
c.195C>T
1 paper
NM_002167.5
p.S65R
c.195C>G
2 papers
NM_002167.5
p.S65R
c.195C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."