Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D322N

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.D322N
c.964G>A
Surrounding Variants
3 papers
NM_000193.4
p.Y316_R321del6
c.946_962del18
1 paper
NM_000193.4
p.R321H
c.962G>A
1 paper
NM_000193.4
p.R321S
c.961C>A
2 papers
NM_000193.4
p.G323G
c.969G>T
1 paper
NM_000193.4
p.E320*
c.958G>T
1 paper
NM_000193.4
p.V318E
c.953T>A
1 paper
NM_000193.4
p.V317L
c.949G>C
1 paper
NM_000193.4
p.L327P
c.980T>C
1 paper
NM_000193.4
p.P329S
c.985C>T
1 paper
NM_000193.4
p.A330V
c.989C>T
1 paper
NM_000193.4
p.A331T
c.991G>A
9 papers
NM_000193.4
p.V332A
c.995T>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."