Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.S156insFs

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
2 papers
NM_000193.4
p.S156insFs
c.467_468insT
Surrounding Variants
2 papers
NM_000193.4
p.S156R
c.468C>G
2 papers
NM_000193.4
p.S156R
c.468C>A
1 paper
NM_000193.4
p.S156C
c.466A>T
2 papers
NM_000193.4
p.S156R
c.466A>C
1 paper
NM_000193.4
p.K157*
c.469A>T
5 papers
NM_000193.4
p.R155C
c.463C>T
9 papers
NM_000193.4
p.Y158*
c.474C>G
9 papers
NM_000193.4
p.Y158*
c.474C>A
2 papers
NM_000193.4
p.L161Q
c.482T>A
1 paper
NM_000193.4
p.A162T
c.484G>A
1 paper
NM_000193.4
p.A162V
c.485C>T
5 papers
NM_000193.4
p.T150R
c.449C>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."