Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D222N

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
8 papers
NM_000193.4
p.D222N
c.664G>A
Surrounding Variants
1 paper
NM_000193.4
p.P220P
c.660C>G
1 paper
NM_000193.4
p.L214_S219delFs
c.641_657del17
7 papers
NM_000193.4
p.V224E
c.671T>A
1 paper
NM_000193.4
p.S219G
c.655A>G
1 paper
NM_000193.4
p.L225P
c.674T>C
1 paper
NM_000193.4
p.L218L
c.654G>C
2 papers
NM_000193.4
p.L218R
c.653T>G
8 papers
NM_000193.4
p.L218P
c.653T>C
17 papers
NM_000193.4
p.A226T
c.676G>A
1 paper
NM_000193.4
p.L218L
c.652C>T
1 paper
NM_000193.4
p.A226E
c.677C>A
1 paper
NM_000193.4
p.K216R
c.647A>G
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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."