Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.A325A

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.A325A
c.975C>G
Surrounding Variants
1 paper
NM_002181.4
p.G327R
c.979G>A
1 paper
NM_002181.4
p.L332L
c.996C>T
2 papers
NM_002181.4
p.P331_T333del3
c.991_998del9
1 paper
NM_002181.4
p.V317L
c.949G>T
1 paper
NM_002181.4
p.V317L
c.949G>C
7 papers
NM_002181.4
p.V317M
c.949G>A
2 papers
NM_002181.4
p.K334insFs
c.1001_1002insC
1 paper
NM_002181.4
p.A315S
c.943G>T
1 paper
NM_002181.4
p.A315T
c.943G>A
1 paper
NM_002181.4
p.A345G
c.1034C>G
1 paper
NM_002181.4
p.V351M
c.1051G>A
4 papers
NM_002181.4
p.V298M
c.892G>A
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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."