Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.R163G

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.R163G
c.487C>G
Surrounding Variants
1 paper
NM_000193.4
p.R163C
c.487C>T
1 paper
NM_000193.4
p.A162V
c.485C>T
1 paper
NM_000193.4
p.A162T
c.484G>A
2 papers
NM_000193.4
p.L161Q
c.482T>A
2 papers
NM_000193.4
p.A165V
c.494C>T
1 paper
NM_000193.4
p.V166V
c.498G>A
9 papers
NM_000193.4
p.Y158*
c.474C>G
9 papers
NM_000193.4
p.Y158*
c.474C>A
2 papers
NM_000193.4
p.E167G
c.500A>G
1 paper
NM_000193.4
p.A168insFs
c.502_503insT
1 paper
NM_000193.4
p.A168G
c.503C>G
1 paper
NM_000193.4
p.G169R
c.505G>C
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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."