Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.P225L

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.P225L
c.674C>T
Surrounding Variants
1 paper
NM_002181.4
p.R228C
c.682C>T
1 paper
NM_002181.4
p.R228L
c.683G>T
1 paper
NM_002181.4
p.V229L
c.685G>C
4 papers
NM_002181.4
p.V229M
c.685G>A
1 paper
NM_002181.4
p.L230_A231insFs
c.690_691insC
1 paper
NM_002181.4
p.V218M
c.652G>A
1 paper
NM_002181.4
p.A216V
c.647C>T
1 paper
NM_002181.4
p.S214insFs
c.642dupT
1 paper
NM_002181.4
p.S214N
c.641G>A
1 paper
NM_002181.4
p.R211H
c.632G>A
1 paper
NM_002181.4
p.R211C
c.631C>T
1 paper
NM_002181.4
p.F240S
c.719T>C
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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."