Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L452L

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.L452L
c.1354C>T
Surrounding Variants
1 paper
NM_000193.4
p.G456R
c.1366G>C
1 paper
NM_000193.4
p.M457fs
c.1369_1370fs
1 paper
NM_000193.4
p.L446_L447ins1
c.1338_1339insGCG
2 papers
NM_000193.4
p.M457delFs
c.1370delA
1 paper
NM_000193.4
p.A458insFs
c.1374dupG
1 paper
NM_000193.4
p.T444I
c.1331C>T
1 paper
NM_000193.4
p.I442insFs
c.1325dupT
1 paper
NM_000193.4
p.Q441_I442ins5
c.1321_1325ins15
2 papers
NM_000193.4
p.Q437*
c.1309C>T
1 paper
NM_000193.4
p.S436delFs
c.1308delC
7 papers
NM_000193.4
p.S436L
c.1307C>T
2 papers
NM_000193.4
p.S436*
c.1307C>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."