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.S363C

c.1088C>G

Surrounding Variants

12 papers

NM_002340.6

p.W370Splc

c.1109+2T>C

1 paper

NM_002340.6

p.A354T

c.1060G>A

12 papers

NM_002340.6

p.G352R

c.1054G>C

11 papers

NM_002340.6

p.G352R

c.1054G>A

1 paper

NM_002340.6

p.W348*

c.1043G>A

1 paper

NM_002340.6

p.M344V

c.1030A>G

20 papers

NM_002340.6

p.I342S

c.1025T>G

1 paper

NM_002340.6

p.I342T

c.1025T>C

1 paper

NM_002340.6

p.S339L

c.1016C>T

1 paper

NM_002340.6

p.I338I

c.1014C>A

1 paper

NM_002340.6

p.G372S

c.1114G>A

1 paper

NM_002340.6

p.D374N

c.1120G>A