Varaico: Literature-Extracted Genetic Variants

LSS

194 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in t...

Pfam Domains

SQHop_cyclase_Naa 79–352UCSCSqualene-hopene cyclase N-terminal domain

SQHop_cyclase_Caa 383–721UCSCSqualene-hopene cyclase C-terminal domain

Gene Aliases

HGNC Name

lanosterol synthase

HGNC Alias Symbol

OSC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002340.6

p.S580C

c.1739C>G

Surrounding Variants

16 papers

NM_002340.6

p.W581R

c.1741T>C

16 papers

NM_002340.6

p.W581R

c.1741T>A

1 paper

NM_002340.6

p.F585I

c.1753T>A

18 papers

NM_002340.6

p.G588S

c.1762G>A

2 papers

NM_002340.6

p.G600V

c.1799G>T

13 papers

NM_002340.6

p.R604*

c.1810C>T

1 paper

NM_002340.6

p.A573A

c.1719C>T

10 papers

NM_002340.6

p.R568W

c.1702C>T

1 paper

NM_002340.6

p.T561M

c.1682C>T

1 paper

NM_002340.6

p.E558G

c.1673A>G

1 paper

NM_002340.6

p.A610A

c.1830A>C

1 paper

NM_002340.6

p.S613F

c.1838C>T