Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L76L

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.L76L
c.228C>A
Surrounding Variants
2 papers
NM_000193.4
p.L76L
c.228C>T
1 paper
NM_000193.4
p.T77A
c.229A>G
1 paper
NM_000193.4
p.P78S
c.232C>T
1 paper
NM_000193.4
p.K74fs
c.220_221fs
1 paper
NM_000193.4
p.F73C
c.218T>G
1 paper
NM_000193.4
p.Y80Y
c.240C>T
1 paper
NM_000193.4
p.R72L
c.215G>T
1 paper
NM_000193.4
p.R72*
c.214C>T
1 paper
NM_000193.4
p.R72G
c.214C>G
2 papers
NM_000193.4
p.E71E
c.213G>A
2 papers
NM_000193.4
p.N81N
c.243C>T
1 paper
NM_000193.4
p.E71A
c.212A>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."