Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.T130fs

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.T130fs
c.388_389fs
Surrounding Variants
2 papers
NM_002181.4
p.V129_T130insFs
c.387_388insC
1 paper
NM_002181.4
p.V129V
c.387G>A
7 papers
NM_002181.4
p.T130N
c.389C>A
2 papers
NM_002181.4
p.E131Q
c.391G>C
21 papers
NM_002181.4
p.E131K
c.391G>A
1 paper
NM_002181.4
p.R128R
c.384G>A
5 papers
NM_002181.4
p.R128Q
c.383G>A
1 paper
NM_002181.4
p.V125V
c.375G>C
1 paper
NM_002181.4
p.D134_E135insFs
c.402_403insC
1 paper
NM_002181.4
p.E135D
c.405G>C
1 paper
NM_002181.4
p.D136G
c.407A>G
1 paper
NM_002181.4
p.W122*
c.366G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."