Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Q745K

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.Q745K
c.2233C>A
Surrounding Variants
2 papers
NM_005631.5
p.Q745*
c.2233C>T
1 paper
NM_005631.5
p.Q745_P750del6
c.2233_2249del18
1 paper
NM_005631.5
p.D746_F748del3
c.2236_2243del9
1 paper
NM_005631.5
p.D746_P750del5
c.2236_2249del15
1 paper
NM_005631.5
p.D746_S751del6
c.2236_2252del18
1 paper
NM_005631.5
p.P747_P753del7
c.2239_2258del21
1 paper
NM_005631.5
p.P743T
c.2227C>A
2 papers
NM_005631.5
p.P743S
c.2227C>T
1 paper
NM_005631.5
p.P747L
c.2240C>T
1 paper
NM_005631.5
p.S742C
c.2224A>T
1 paper
NM_005631.5
p.L749V
c.2245C>G
1 paper
NM_005631.5
p.E740D
c.2220G>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."