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.L642V

c.1924T>G

Surrounding Variants

10 papers

NM_002340.6

p.T652I

c.1955C>T

1 paper

NM_002340.6

p.E631K

c.1891G>A

16 papers

NM_002340.6

p.W629C

c.1887G>T

16 papers

NM_002340.6

p.W629C

c.1887G>C

1 paper

NM_002340.6

p.W629*

c.1887G>A

2 papers

NM_002340.6

p.W629*

c.1886G>A

11 papers

NM_002340.6

p.W629R

c.1885T>C

11 papers

NM_002340.6

p.W629R

c.1885T>A

1 paper

NM_002340.6

p.M657R

c.1970T>G

1 paper

NM_002340.6

p.R663W

c.1987C>T

1 paper

NM_002340.6

p.D617V

c.1850A>T

2 papers

NM_002340.6

p.R614W

c.1840C>T