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.G139R

c.415G>C

Surrounding Variants

1 paper

NM_002340.6

p.G139S

c.415G>A

11 papers

NM_002340.6

p.W141*

c.422G>A

13 papers

NM_002340.6

p.W141*

c.423G>A

1 paper

NM_002340.6

p.L136F

c.406C>T

1 paper

NM_002340.6

p.V134G

c.401T>G

3 papers

NM_002340.6

p.L131L

c.393G>A

2 papers

NM_002340.6

p.R129Q

c.386G>A

1 paper

NM_002340.6

p.R129W

c.385C>T

1 paper

NM_002340.6

p.E126D

c.378G>T

1 paper

NM_002340.6

p.E126D

c.378G>C

1 paper

NM_002340.6

p.Y123*

c.369C>G

1 paper

NM_002340.6

p.Y123*

c.369C>A