Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R772C

SMO

1,034 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins afte...

Pfam Domains

Fzaa 70–178UCSCFz domain
Frizzledaa 221–552UCSCFrizzled/Smoothened family membrane region

Gene Aliases

HGNC Name

smoothened, frizzled class receptor

HGNC Previous Symbol

SMOH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005631.5
p.R772C
c.2314C>T
Surrounding Variants
2 papers
NM_005631.5
p.R772H
c.2315G>A
1 paper
NM_005631.5
p.H770insFs
c.2309_2310insC
1 paper
NM_005631.5
p.I769N
c.2306T>A
2 papers
NM_005631.5
p.H770_S771delFs
c.2309_2312del4
1 paper
NM_005631.5
p.M776V
c.2326A>G
1 paper
NM_005631.5
p.G767A
c.2300G>C
1 paper
NM_005631.5
p.D777_T778delins
c.2331_2332delinsGG
1 paper
NM_005631.5
p.T778K
c.2333C>A
2 papers
NM_005631.5
p.E779K
c.2335G>A
1 paper
NM_005631.5
p.L780F
c.2338C>T
2 papers
NM_005631.5
p.Q764delFs
c.2291_2292delAG
1 paper
NM_005631.5
p.Q764fs
c.2290_2291fs
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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."