Varaico: Literature-Extracted Genetic Variants

Gene:IHH
Variant:p.Q386H

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.Q386H
c.1158G>C
Surrounding Variants
1 paper
NM_002181.4
p.Q386H
c.1158G>T
2 papers
NM_002181.4
p.L387_L388insC
c.1159_1163ins3
1 paper
NM_002181.4
p.Y389S
c.1166A>C
1 paper
NM_002181.4
p.R390C
c.1168C>T
3 papers
NM_002181.4
p.R390H
c.1169G>A
2 papers
NM_002181.4
p.G392R
c.1174G>A
2 papers
NM_002181.4
p.G380V
c.1139G>T
2 papers
NM_002181.4
p.G380R
c.1138G>C
1 paper
NM_002181.4
p.P377L
c.1130C>T
4 papers
NM_002181.4
p.T376T
c.1128T>C
1 paper
NM_002181.4
p.W375C
c.1125G>T
1 paper
NM_002181.4
p.E398D
c.1194G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."