Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.Q116_W117delFs

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
1 paper
NM_000193.4
p.Q116_W117delFs
c.346_349del4
Surrounding Variants
12 papers
NM_000193.4
p.W117G
c.349T>G
12 papers
NM_000193.4
p.W117R
c.349T>C
10 papers
NM_000193.4
p.W117R
c.349T>A
1 paper
NM_000193.4
p.P118R
c.353C>G
1 paper
NM_000193.4
p.Q116*
c.346C>T
1 paper
NM_000193.4
p.G119*
c.355G>T
8 papers
NM_000193.4
p.N115K
c.345C>G
8 papers
NM_000193.4
p.N115K
c.345C>A
1 paper
NM_000193.4
p.N115S
c.344A>G
1 paper
NM_000193.4
p.M114V
c.340A>G
1 paper
NM_000193.4
p.V113A
c.338T>C
2 papers
NM_000193.4
p.S112*
c.335C>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."