Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.M1V

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
2 papers
NM_000193.4
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_000193.4
p.M1L
c.1A>T
1 paper
NM_000193.4
p.M1L
c.1A>C
1 paper
NM_000193.4
p.M1ins3
c.1_2ins9
2 papers
NM_000193.4
p.M1T
c.2T>C
1 paper
NM_000193.4
p.M1delFs
c.1delT
2 papers
NM_000193.4
p.M1insFs
c.2dupT
1 paper
NM_000193.4
p.M1_L2insFs
c.3_4insA
1 paper
NM_000193.4
p.M1I
c.3G>A
1 paper
NM_000193.4
p.L2L
c.4C>T
1 paper
NM_000193.4
p.L2Q
c.5T>A
1 paper
NM_000193.4
p.L2insFs
c.5dupT
1 paper
NM_000193.4
p.L2L
c.6G>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."