Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E130V

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.E130V
c.389A>T
Surrounding Variants
6 papers
NM_000193.4
p.E130*
c.388G>T
1 paper
NM_000193.4
p.D129delFs
c.387delG
1 paper
NM_000193.4
p.D131N
c.391G>A
7 papers
NM_000193.4
p.W128*
c.384G>A
8 papers
NM_000193.4
p.W128*
c.383G>A
1 paper
NM_000193.4
p.G127delFs
c.381delG
1 paper
NM_000193.4
p.W128fs
c.382_383fs
1 paper
NM_000193.4
p.G132G
c.396C>T
1 paper
NM_000193.4
p.G132fs
c.394_395fs
1 paper
NM_000193.4
p.G132delFs
c.394delC
9 papers
NM_000193.4
p.H133Y
c.397C>T
3 papers
NM_000193.4
p.E126_G127del1
c.378_380delCCC
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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."