Varaico: Literature-Extracted Genetic Variants

Gene:IHH

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
1–12 of 195 variants
30 papers
NM_002181.4
p.E95K
c.283G>A
22 papers
NM_002181.4
p.D100E
c.300C>A
21 papers
NM_002181.4
p.D100E
c.300C>G
21 papers
NM_002181.4
p.E131K
c.391G>A
19 papers
NM_002181.4
p.D100N
c.298G>A
12 papers
NM_002181.4
p.E95G
c.284A>G
10 papers
NM_002181.4
p.E95del1
c.283_284delCTC
8 papers
NM_002181.4
p.P46L
c.137C>T
8 papers
NM_002181.4
p.V190A
c.569T>C
7 papers
NM_002181.4
p.T130N
c.389C>A
7 papers
NM_002181.4
p.T154I
c.461C>T
7 papers
NM_002181.4
p.V317M
c.949G>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."