Varaico: Literature-Extracted Genetic Variants

Gene:ID3
Variant:p.E68D

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.E68D
c.204A>C
Surrounding Variants
1 paper
NM_002167.5
p.E68D
c.204A>T
1 paper
NM_002167.5
p.E68fs
c.202_203fs
1 paper
NM_002167.5
p.I69fs
c.205_206fs
1 paper
NM_002167.5
p.E68G
c.203A>G
2 papers
NM_002167.5
p.I69S
c.206T>G
1 paper
NM_002167.5
p.I69delFs
c.205delT
1 paper
NM_002167.5
p.E68*
c.202G>T
1 paper
NM_002167.5
p.E68K
c.202G>A
1 paper
NM_002167.5
p.I69fs
c.205_206fs
1 paper
NM_002167.5
p.L70V
c.208C>G
5 papers
NM_002167.5
p.L70P
c.209T>C
1 paper
NM_002167.5
p.L70Q
c.209T>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."