Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.H134R

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.H134R
c.401A>G
Surrounding Variants
1 paper
NM_000193.4
p.H134_S135insFs
c.402_403insC
1 paper
NM_000193.4
p.D131_H134del4
c.391_401del12
1 paper
NM_000193.4
p.S135fs
c.403_404fs
2 papers
NM_000193.4
p.S135*
c.404C>G
1 paper
NM_000193.4
p.S135*
c.404C>A
9 papers
NM_000193.4
p.H133Y
c.397C>T
1 paper
NM_000193.4
p.S135_E136insFs
c.405_406insC
2 papers
NM_000193.4
p.E136K
c.406G>A
1 paper
NM_000193.4
p.G132G
c.396C>T
1 paper
NM_000193.4
p.G132fs
c.394_395fs
1 paper
NM_000193.4
p.G132delFs
c.394delC
1 paper
NM_000193.4
p.H134_E137delFs
c.402_409del8
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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."