Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.G343S

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.G343S
c.1027G>A
Surrounding Variants
1 paper
NM_000193.4
p.G343G
c.1029C>T
1 paper
NM_000193.4
p.A344P
c.1030G>C
1 paper
NM_000193.4
p.A344G
c.1031C>G
1 paper
NM_000193.4
p.A341V
c.1022C>T
1 paper
NM_000193.4
p.Y345*
c.1035C>G
1 paper
NM_000193.4
p.Y345*
c.1035C>A
1 paper
NM_000193.4
p.E340*
c.1018G>T
1 paper
NM_000193.4
p.A346P
c.1036G>C
2 papers
NM_000193.4
p.A346V
c.1037C>T
3 papers
NM_000193.4
p.E339*
c.1015G>T
1 paper
NM_000193.4
p.P347S
c.1039C>T
3 papers
NM_000193.4
p.P347L
c.1040C>T
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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."