Varaico: Literature-Extracted Genetic Variants

Gene:ID2
Variant:p.H18L

ID2

68 papers

RefSeq Summary

The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Me...

Pfam Domains

HLHaa 33–76UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

inhibitor of DNA binding 2

HGNC Alias Symbols

GIG8; bHLHb26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002166.5
p.H18L
c.53A>T
Surrounding Variants
1 paper
NM_002166.5
p.N13H
c.37A>C
3 papers
NM_002166.5
p.T27A
c.79A>G
1 paper
NM_002166.5
p.R8insFs
c.23dupG
1 paper
NM_002166.5
p.F4insFs
c.12dupC
1 paper
NM_002166.5
p.M1I
c.3G>A
1 paper
NM_002166.5
p.M1Fs
c.3delinsCATTTGGGCTCCTCATTTGGFs
1 paper
NM_002166.5
p.M1insFs
c.1dupA
1 paper
NM_002166.5
p.L46F
c.136C>T
1 paper
NM_002166.5
p.E48K
c.142G>A
1 paper
NM_002166.5
p.K61K
c.183G>A
1 paper
NM_002166.5
p.M62I
c.186G>T
1 paper
NM_002166.5
p.I85T
c.254T>C
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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."