Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.G408R

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.G408R
c.1222G>A
Surrounding Variants
4 papers
NM_002181.4
p.G408R
c.1222G>C
3 papers
NM_002181.4
p.F401S
c.1202T>C
1 paper
NM_002181.4
p.S400N
c.1199G>A
1 paper
NM_002181.4
p.E398D
c.1194G>T
1 paper
NM_002181.4
p.E398D
c.1194G>C
2 papers
NM_002181.4
p.G392R
c.1174G>A
3 papers
NM_002181.4
p.R390H
c.1169G>A
1 paper
NM_002181.4
p.R390C
c.1168C>T
1 paper
NM_002181.4
p.Y389S
c.1166A>C
2 papers
NM_002181.4
p.L387_L388insC
c.1159_1163ins3
1 paper
NM_002181.4
p.Q386H
c.1158G>T
1 paper
NM_002181.4
p.Q386H
c.1158G>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."