Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.D100G

IHH

244 papers

RefSeq Summary

This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is in...

Pfam Domains

HH_signalaa 28–189UCSCHedgehog amino-terminal signalling domain
Hintaa 191–397UCSCHint module

Gene Aliases

HGNC Name

Indian hedgehog signaling molecule

HGNC Alias Symbols

HHG2; BDA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002181.4
p.D100G
c.299A>G
Surrounding Variants
1 paper
NM_002181.4
p.D100A
c.299A>C
19 papers
NM_002181.4
p.D100N
c.298G>A
21 papers
NM_002181.4
p.D100E
c.300C>G
22 papers
NM_002181.4
p.D100E
c.300C>A
6 papers
NM_002181.4
p.L102P
c.305T>C
1 paper
NM_002181.4
p.G98insFs
c.293_294insC
2 papers
NM_002181.4
p.E95_N96ins0
c.285_287dupGAA
2 papers
NM_002181.4
p.T104I
c.311C>T
10 papers
NM_002181.4
p.E95del1
c.283_284delCTC
12 papers
NM_002181.4
p.E95G
c.284A>G
30 papers
NM_002181.4
p.E95K
c.283G>A
1 paper
NM_002181.4
p.D93insFs
c.278_279insT
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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."