Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.F241L

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.F241L
c.721T>C
Surrounding Variants
3 papers
NM_000193.4
p.F241V
c.721T>G
1 paper
NM_000193.4
p.F241L
c.723C>G
1 paper
NM_000193.4
p.F241L
c.723C>A
1 paper
NM_000193.4
p.L242V
c.724C>G
1 paper
NM_000193.4
p.T240P
c.718A>C
1 paper
NM_000193.4
p.L239del1
c.715_717delGAG
1 paper
NM_000193.4
p.D243Y
c.727G>T
1 paper
NM_000193.4
p.R244fs
c.730_731fs
1 paper
NM_000193.4
p.R244delFs
c.730delG
1 paper
NM_000193.4
p.D237insFs
c.709_710insC
8 papers
NM_000193.4
p.S236R
c.708C>G
8 papers
NM_000193.4
p.S236R
c.708C>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."