Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.A428_G431del0

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.A428_G431del0
c.1283_1291del9
Surrounding Variants
1 paper
NM_000193.4
p.I432N
c.1295T>A
1 paper
NM_000193.4
p.A430T
c.1288G>A
1 paper
NM_000193.4
p.H433insFs
c.1299dupC
2 papers
NM_000193.4
p.W434insFs
c.1300_1301insA
3 papers
NM_000193.4
p.W434*
c.1301G>A
2 papers
NM_000193.4
p.A428delFs
c.1282delC
3 papers
NM_000193.4
p.W434*
c.1302G>A
2 papers
NM_000193.4
p.A428fs
c.1282_1283fs
1 paper
NM_000193.4
p.Y435D
c.1303T>G
3 papers
NM_000193.4
p.Y435N
c.1303T>A
1 paper
NM_000193.4
p.Y435F
c.1304A>T
6 papers
NM_000193.4
p.G427R
c.1279G>C
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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."