Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.N184fs

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
1 paper
NM_005631.5
p.N184fs
c.550_551fs
Surrounding Variants
2 papers
NM_005631.5
p.Q183L
c.548A>T
1 paper
NM_005631.5
p.V182L
c.544G>C
1 paper
NM_005631.5
p.K186R
c.557A>G
1 paper
NM_005631.5
p.K186M
c.557A>T
1 paper
NM_005631.5
p.E181A
c.542A>C
2 papers
NM_005631.5
p.F187V
c.559T>G
4 papers
NM_005631.5
p.N180K
c.540T>A
4 papers
NM_005631.5
p.N180K
c.540T>G
1 paper
NM_005631.5
p.S189N
c.566G>A
1 paper
NM_005631.5
p.S190S
c.570A>G
2 papers
NM_005631.5
p.G191G
c.573C>G
2 papers
NM_005631.5
p.Q192*
c.574C>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."