Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.Q51K

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
3 papers
NM_002181.4
p.Q51K
c.151C>A
Surrounding Variants
1 paper
NM_002181.4
p.S53insFs
c.158_159insC
1 paper
NM_002181.4
p.S53N
c.158G>A
1 paper
NM_002181.4
p.A48T
c.142G>A
8 papers
NM_002181.4
p.P46L
c.137C>T
1 paper
NM_002181.4
p.L44P
c.131T>C
5 papers
NM_002181.4
p.E58K
c.172G>A
1 paper
NM_002181.4
p.R38_R42delFs
c.112_124del13
1 paper
NM_002181.4
p.L61fs
c.181_182fs
1 paper
NM_002181.4
p.L61insFs
c.181dupC
1 paper
NM_002181.4
p.A63P
c.187G>C
1 paper
NM_002181.4
p.R39G
c.115C>G
1 paper
NM_002181.4
p.G69insFs
c.206_207insG
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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."