Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.S192A

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
1 paper
NM_002181.4
p.S192A
c.574T>G
Surrounding Variants
1 paper
NM_002181.4
p.S192S
c.576C>T
2 papers
NM_002181.4
p.V190del1
c.568_569delGAC
8 papers
NM_002181.4
p.V190A
c.569T>C
1 paper
NM_002181.4
p.A184insFs
c.551dupC
2 papers
NM_002181.4
p.S182_K183del0
c.544_549del6
1 paper
NM_002181.4
p.E181fs
c.541_542fs
2 papers
NM_002181.4
p.E181delFs
c.541delC
2 papers
NM_002181.4
p.E181fs
c.541_542fs
3 papers
NM_002181.4
p.V178L
c.532G>T
3 papers
NM_002181.4
p.V178L
c.532G>C
3 papers
NM_002181.4
p.V178M
c.532G>A
3 papers
NM_002181.4
p.W177C
c.531G>T
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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."