Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.A324T

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
13 papers
NM_005631.5
p.A324T
c.970G>A
Surrounding Variants
1 paper
NM_005631.5
p.A324V
c.971C>T
1 paper
NM_005631.5
p.A324A
c.972C>T
1 paper
NM_005631.5
p.L325M
c.973C>A
1 paper
NM_005631.5
p.Y323H
c.967T>C
1 paper
NM_005631.5
p.L325P
c.974T>C
1 paper
NM_005631.5
p.Y322S
c.965A>C
1 paper
NM_005631.5
p.M326V
c.976A>G
3 papers
NM_005631.5
p.V321A
c.962T>C
21 papers
NM_005631.5
p.V321M
c.961G>A
5 papers
NM_005631.5
p.A327T
c.979G>A
2 papers
NM_005631.5
p.A327P
c.979G>C
1 paper
NM_005631.5
p.I320I
c.960C>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."