Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.L111del1

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.L111del1
c.331_332delCAG
Surrounding Variants
1 paper
NM_002181.4
p.S113P
c.337T>C
1 paper
NM_002181.4
p.L111L
c.331C>T
1 paper
NM_002181.4
p.R110H
c.329G>A
3 papers
NM_002181.4
p.C107delFs
c.319delA
1 paper
NM_002181.4
p.S117P
c.349T>C
2 papers
NM_002181.4
p.C107fs
c.319_320fs
1 paper
NM_002181.4
p.N120K
c.360C>G
1 paper
NM_002181.4
p.W122*
c.365G>A
1 paper
NM_002181.4
p.W122*
c.366G>A
1 paper
NM_002181.4
p.V125V
c.375G>C
5 papers
NM_002181.4
p.R128Q
c.383G>A
1 paper
NM_002181.4
p.R128R
c.384G>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."