Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.V173E

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.V173E
c.518T>A
Surrounding Variants
1 paper
NM_000193.4
p.W172*
c.515G>A
1 paper
NM_000193.4
p.Y174C
c.521A>G
1 paper
NM_000193.4
p.Y174Y
c.522C>T
1 paper
NM_000193.4
p.Y174*
c.522C>G
1 paper
NM_000193.4
p.Y174*
c.522C>A
3 papers
NM_000193.4
p.D171H
c.511G>C
3 papers
NM_000193.4
p.Y175*
c.525C>G
3 papers
NM_000193.4
p.Y175*
c.525C>A
1 paper
NM_000193.4
p.F170C
c.509T>G
1 paper
NM_000193.4
p.E176G
c.527A>G
2 papers
NM_000193.4
p.E176A
c.527A>C
1 paper
NM_000193.4
p.S177Y
c.530C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."