Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.R160C

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
4 papers
NM_002181.4
p.R160C
c.478C>T
Surrounding Variants
3 papers
NM_002181.4
p.N161fs
c.481_482fs
1 paper
NM_002181.4
p.R158H
c.473G>A
6 papers
NM_002181.4
p.R158C
c.472C>T
1 paper
NM_002181.4
p.K162*
c.484A>T
1 paper
NM_002181.4
p.D157D
c.471C>T
2 papers
NM_002181.4
p.D157G
c.470A>G
1 paper
NM_002181.4
p.S156insFs
c.467_468insT
1 paper
NM_002181.4
p.G164E
c.491G>A
7 papers
NM_002181.4
p.T154I
c.461C>T
1 paper
NM_002181.4
p.L166P
c.497T>C
6 papers
NM_002181.4
p.R149H
c.446G>A
3 papers
NM_002181.4
p.N161_A170delFs
c.482_510del29
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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."