Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.D88G

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.D88G
c.263A>G
Surrounding Variants
1 paper
NM_002181.4
p.T82_N86del0
c.245_256del12
2 papers
NM_002181.4
p.F91L
c.271T>C
2 papers
NM_002181.4
p.F91L
c.273C>G
2 papers
NM_002181.4
p.F91L
c.273C>A
1 paper
NM_002181.4
p.N84S
c.251A>G
1 paper
NM_002181.4
p.D93insFs
c.278_279insT
30 papers
NM_002181.4
p.E95K
c.283G>A
12 papers
NM_002181.4
p.E95G
c.284A>G
10 papers
NM_002181.4
p.E95del1
c.283_284delCTC
1 paper
NM_002181.4
p.E80K
c.238G>A
2 papers
NM_002181.4
p.E95_N96ins0
c.285_287dupGAA
1 paper
NM_002181.4
p.G98insFs
c.293_294insC
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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."