Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.P266insFs

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.P266insFs
c.797dupC
Surrounding Variants
1 paper
NM_002181.4
p.R267C
c.799C>T
3 papers
NM_002181.4
p.R267fs
c.799_800fs
1 paper
NM_002181.4
p.R267H
c.800G>A
4 papers
NM_002181.4
p.R268C
c.802C>T
1 paper
NM_002181.4
p.R268H
c.803G>A
2 papers
NM_002181.4
p.L271F
c.811C>T
1 paper
NM_002181.4
p.T272S
c.814A>T
4 papers
NM_002181.4
p.H275N
c.823C>A
1 paper
NM_002181.4
p.Q258*
c.772C>T
1 paper
NM_002181.4
p.F278C
c.833T>G
1 paper
NM_002181.4
p.F278S
c.833T>C
1 paper
NM_002181.4
p.T279M
c.836C>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."