Varaico: Literature-Extracted Genetic Variants

Gene:ID3
Variant:p.L54V

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
4 papers
NM_002167.5
p.L54V
c.160C>G
Surrounding Variants
1 paper
NM_002167.5
p.L54P
c.161T>C
3 papers
NM_002167.5
p.E53*
c.157G>T
2 papers
NM_002167.5
p.E53K
c.157G>A
3 papers
NM_002167.5
p.V55E
c.164T>A
1 paper
NM_002167.5
p.R52_V55delFs
c.154_163del10
1 paper
NM_002167.5
p.R52fs
c.154_155fs
11 papers
NM_002167.5
p.P56S
c.166C>T
1 paper
NM_002167.5
p.R52W
c.154C>T
1 paper
NM_002167.5
p.P56A
c.166C>G
2 papers
NM_002167.5
p.P56T
c.166C>A
5 papers
NM_002167.5
p.P56L
c.167C>T
2 papers
NM_002167.5
p.P56R
c.167C>G
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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."