Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.I420T

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.I420T
c.1259T>C
Surrounding Variants
1 paper
NM_005631.5
p.R421G
c.1261C>G
3 papers
NM_005631.5
p.R421*
c.1261C>T
1 paper
NM_005631.5
p.L419F
c.1255C>T
2 papers
NM_005631.5
p.G422E
c.1265G>A
1 paper
NM_005631.5
p.G422Splc
c.1264+2T>G
1 paper
NM_005631.5
p.F418fs
c.1252_1253fs
1 paper
NM_005631.5
p.G422Splc
c.1264+6T>C
3 papers
NM_005631.5
p.G416D
c.1247G>A
3 papers
NM_005631.5
p.G422Splc
c.1264+7G>A
2 papers
NM_005631.5
p.G416delins
c.1247_1248delinsAA
1 paper
NM_005631.5
p.G416R
c.1246G>C
1 paper
NM_005631.5
p.G416C
c.1246G>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."