Varaico: Literature-Extracted Genetic Variants

Gene:SHH

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
1–12 of 536 variants
21 papers
NM_000193.4
p.G290D
c.869G>A
17 papers
NM_000193.4
p.A226T
c.676G>A
16 papers
NM_000193.4
p.I111F
c.331A>T
13 papers
NM_000193.4
p.Q100H
c.300G>C
12 papers
NM_000193.4
p.G31R
c.91G>A
12 papers
NM_000193.4
p.Q100H
c.300G>T
12 papers
NM_000193.4
p.W117G
c.349T>G
12 papers
NM_000193.4
p.W117R
c.349T>C
11 papers
NM_000193.4
p.G31R
c.91G>C
11 papers
NM_000193.4
p.P424A
c.1270C>G
10 papers
NM_000193.4
p.D88V
c.263A>T
10 papers
NM_000193.4
p.W117R
c.349T>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."