Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.S280*

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
3 papers
NM_000193.4
p.S280*
c.839C>A
Surrounding Variants
1 paper
NM_000193.4
p.S280L
c.839C>T
1 paper
NM_000193.4
p.S280W
c.839C>G
1 paper
NM_000193.4
p.H277Q
c.831C>G
5 papers
NM_000193.4
p.E284*
c.850G>T
1 paper
NM_000193.4
p.E284G
c.851A>G
1 paper
NM_000193.4
p.P276T
c.826C>A
1 paper
NM_000193.4
p.A275A
c.825G>A
3 papers
NM_000193.4
p.A275E
c.824C>A
1 paper
NM_000193.4
p.E286D
c.858G>T
1 paper
NM_000193.4
p.E286D
c.858G>C
2 papers
NM_000193.4
p.A287P
c.859G>C
1 paper
NM_000193.4
p.A287A
c.861G>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."