Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.S371N

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.S371N
c.1112G>A
Surrounding Variants
1 paper
NM_000193.4
p.S371C
c.1111A>T
4 papers
NM_000193.4
p.A373T
c.1117G>A
1 paper
NM_000193.4
p.H374R
c.1121A>G
2 papers
NM_000193.4
p.E368*
c.1102G>T
1 paper
NM_000193.4
p.E368K
c.1102G>A
1 paper
NM_000193.4
p.R375R
c.1125G>T
1 paper
NM_000193.4
p.A376D
c.1127C>A
1 paper
NM_000193.4
p.F377S
c.1130T>C
2 papers
NM_000193.4
p.A365T
c.1093G>A
3 papers
NM_000193.4
p.Y364C
c.1091A>G
1 paper
NM_000193.4
p.C363F
c.1088G>T
9 papers
NM_000193.4
p.C363Y
c.1088G>A
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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."