Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.G31R

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
11 papers
NM_000193.4
p.G31R
c.91G>C
Surrounding Variants
1 paper
NM_000193.4
p.G31W
c.91G>T
12 papers
NM_000193.4
p.G31R
c.91G>A
2 papers
NM_000193.4
p.R28_G29insFs
c.84_85insG
2 papers
NM_000193.4
p.G29delFs
c.87delC
1 paper
NM_000193.4
p.F30fs
c.88_89fs
1 paper
NM_000193.4
p.R34K
c.101G>A
5 papers
NM_000193.4
p.G27A
c.80G>C
2 papers
NM_000193.4
p.G27R
c.79G>C
2 papers
NM_000193.4
p.P26L
c.77C>T
2 papers
NM_000193.4
p.H35Q
c.105C>G
3 papers
NM_000193.4
p.P26A
c.76C>G
1 paper
NM_000193.4
p.G25delFs
c.74delC
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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."