Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E188Splc

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.E188Splc
c.562+1G>T
Surrounding Variants
5 papers
NM_000193.4
p.E188Splc
c.562+1G>A
4 papers
NM_000193.4
p.E188Q
c.562G>C
1 paper
NM_000193.4
p.E188Splc
c.562+5G>A
1 paper
NM_000193.4
p.K186ins2
c.556_557ins6
1 paper
NM_000193.4
p.V185V
c.555G>A
1 paper
NM_000193.4
p.V185G
c.554T>G
1 paper
NM_000193.4
p.V185A
c.554T>C
1 paper
NM_000193.4
p.V185M
c.553G>A
1 paper
NM_000193.4
p.S184S
c.552G>C
2 papers
NM_000193.4
p.S184L
c.551C>T
1 paper
NM_000193.4
p.C183delFs
c.549delG
4 papers
NM_000193.4
p.C183F
c.548G>T
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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."