Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.T200I

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.T200I
c.599C>T
Surrounding Variants
1 paper
NM_005631.5
p.T200_D201delFs
c.600_601delAG
5 papers
NM_005631.5
p.R199Q
c.596G>A
1 paper
NM_005631.5
p.R199P
c.596G>C
1 paper
NM_005631.5
p.R199L
c.596G>T
18 papers
NM_005631.5
p.R199W
c.595C>T
2 papers
NM_005631.5
p.N202S
c.605A>G
1 paper
NM_005631.5
p.V198A
c.593T>C
1 paper
NM_005631.5
p.N202K
c.606C>A
1 paper
NM_005631.5
p.N202K
c.606C>G
1 paper
NM_005631.5
p.P203S
c.607C>T
1 paper
NM_005631.5
p.P203L
c.608C>T
1 paper
NM_005631.5
p.L197S
c.590T>C
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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."