Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.S15W

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.S15W
c.44C>G
Surrounding Variants
1 paper
NM_000193.4
p.S15L
c.44C>T
3 papers
NM_000193.4
p.V13_S15delFs
c.38_45del8
1 paper
NM_000193.4
p.S14F
c.41C>T
7 papers
NM_000193.4
p.L17P
c.50T>C
1 paper
NM_000193.4
p.L12_V13delFs
c.36_37delCG
1 paper
NM_000193.4
p.L17insFs
c.50dupT
1 paper
NM_000193.4
p.V13L
c.37G>C
2 papers
NM_000193.4
p.V18L
c.52G>T
1 paper
NM_000193.4
p.V18L
c.52G>C
1 paper
NM_000193.4
p.L12F
c.34C>T
1 paper
NM_000193.4
p.C19*
c.57C>A
1 paper
NM_000193.4
p.L10L
c.28C>T
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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."