Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.T541A

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.T541A
c.1621A>G
Surrounding Variants
2 papers
NM_005631.5
p.T541M
c.1622C>T
4 papers
NM_005631.5
p.A540V
c.1619C>T
1 paper
NM_005631.5
p.A540T
c.1618G>A
1 paper
NM_005631.5
p.K539N
c.1617G>C
1 paper
NM_005631.5
p.K539N
c.1617G>T
1 paper
NM_005631.5
p.T538N
c.1613C>A
2 papers
NM_005631.5
p.T538I
c.1613C>T
1 paper
NM_005631.5
p.L543L
c.1629C>T
1 paper
NM_005631.5
p.I544V
c.1630A>G
1 paper
NM_005631.5
p.R546G
c.1636A>G
1 paper
NM_005631.5
p.W535*
c.1605G>A
1 paper
NM_005631.5
p.R546K
c.1637G>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."