Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.E181delFs

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.E181delFs
c.541delC
Surrounding Variants
1 paper
NM_002181.4
p.E181fs
c.541_542fs
2 papers
NM_002181.4
p.E181fs
c.541_542fs
2 papers
NM_002181.4
p.S182_K183del0
c.544_549del6
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
3 papers
NM_002181.4
p.W177C
c.531G>C
2 papers
NM_002181.4
p.W177*
c.531G>A
2 papers
NM_002181.4
p.W177*
c.530G>A
1 paper
NM_002181.4
p.A184insFs
c.551dupC
1 paper
NM_002181.4
p.E172_F175delFs
c.514_524del11
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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."