Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.M532I

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.M532I
c.1596G>A
Surrounding Variants
1 paper
NM_005631.5
p.M532I
c.1596G>C
1 paper
NM_005631.5
p.M532I
c.1596G>T
13 papers
NM_005631.5
p.S533N
c.1598G>A
1 paper
NM_005631.5
p.T534delFs
c.1600delA
1 paper
NM_005631.5
p.T534fs
c.1600_1601fs
4 papers
NM_005631.5
p.T534I
c.1601C>T
1 paper
NM_005631.5
p.A531T
c.1591G>A
3 papers
NM_005631.5
p.W535R
c.1603T>A
3 papers
NM_005631.5
p.W535R
c.1603T>C
1 paper
NM_005631.5
p.W535*
c.1604G>A
118 papers
NM_005631.5
p.W535L
c.1604G>T
1 paper
NM_005631.5
p.W535*
c.1605G>A
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