Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.E518A

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
2 papers
NM_005631.5
p.E518A
c.1553A>C
Surrounding Variants
2 papers
NM_005631.5
p.E518G
c.1553A>G
5 papers
NM_005631.5
p.E518K
c.1552G>A
1 paper
NM_005631.5
p.K519del1
c.1555_1556delAAG
1 paper
NM_005631.5
p.I520_M525delFs
c.1558_1574del17
1 paper
NM_005631.5
p.L515F
c.1543C>T
1 paper
NM_005631.5
p.L522M
c.1564C>A
2 papers
NM_005631.5
p.L522V
c.1564C>G
1 paper
NM_005631.5
p.P513Q
c.1538C>A
1 paper
NM_005631.5
p.P513L
c.1538C>T
2 papers
NM_005631.5
p.A524P
c.1570G>C
1 paper
NM_005631.5
p.A524V
c.1571C>T
3 papers
NM_005631.5
p.R512H
c.1535G>A
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."