Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.K356N

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.K356N
c.1068G>C
Surrounding Variants
1 paper
NM_005631.5
p.K356N
c.1068G>T
1 paper
NM_005631.5
p.S358F
c.1073C>T
4 papers
NM_005631.5
p.S354L
c.1061C>T
1 paper
NM_005631.5
p.F360F
c.1080C>T
1 paper
NM_005631.5
p.H361_L362ins4
c.1081_1085ins12
1 paper
NM_005631.5
p.P352L
c.1055C>T
1 paper
NM_005631.5
p.H361P
c.1082A>C
1 paper
NM_005631.5
p.Q351R
c.1052A>G
1 paper
NM_005631.5
p.L362delFs
c.1086delG
2 papers
NM_005631.5
p.Y350C
c.1049A>G
1 paper
NM_005631.5
p.L363F
c.1087C>T
1 paper
NM_005631.5
p.L363fs
c.1087_1088fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."