Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.Q100*

SHH

643 papers

RefSeq Summary

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior lim...

Pfam Domains

HH_signalaa 24–184UCSCHedgehog amino-terminal signalling domain
Hintaa 186–448UCSCHint module

Gene Aliases

HGNC Name

sonic hedgehog signaling molecule

HGNC Previous Symbols

HPE3; HLP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000193.4
p.Q100*
c.298C>T
Surrounding Variants
1 paper
NM_000193.4
p.T99fs
c.295_296fs
1 paper
NM_000193.4
p.Q100delFs
c.298delG
12 papers
NM_000193.4
p.Q100H
c.300G>T
13 papers
NM_000193.4
p.Q100H
c.300G>C
1 paper
NM_000193.4
p.M98insFs
c.293_294insC
2 papers
NM_000193.4
p.L97P
c.290T>C
1 paper
NM_000193.4
p.R96del1
c.286_288delCCT
1 paper
NM_000193.4
p.A94insFs
c.281_282dupCG
1 paper
NM_000193.4
p.A94S
c.280G>T
2 papers
NM_000193.4
p.G93insFs
c.278_279insT
1 paper
NM_000193.4
p.G93E
c.278G>A
1 paper
NM_000193.4
p.N79_T92insFs
c.237_276dup40
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."