Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.R144P

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.R144P
c.431G>C
Surrounding Variants
1 paper
NM_000193.4
p.R144L
c.431G>T
1 paper
NM_000193.4
p.A145S
c.433G>T
2 papers
NM_000193.4
p.G143D
c.428G>A
1 paper
NM_000193.4
p.G143S
c.427G>A
1 paper
NM_000193.4
p.V146G
c.437T>G
2 papers
NM_000193.4
p.E142K
c.424G>A
7 papers
NM_000193.4
p.D147N
c.439G>A
1 paper
NM_000193.4
p.Y141*
c.423C>G
1 paper
NM_000193.4
p.Y141*
c.423C>A
3 papers
NM_000193.4
p.D147A
c.440A>C
6 papers
NM_000193.4
p.H140Q
c.420C>G
6 papers
NM_000193.4
p.H140Q
c.420C>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."