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.T16I

c.47C>T

Surrounding Variants

1 paper

NM_002340.6

p.P18L

c.53C>T

12 papers

NM_002340.6

p.Y14C

c.41A>G

1 paper

NM_002340.6

p.T20A

c.58A>G

13 papers

NM_002340.6

p.G12D

c.35G>A

1 paper

NM_002340.6

p.G11R

c.31G>C

1 paper

NM_002340.6

p.G11R

c.31G>A

1 paper

NM_002340.6

p.R10Q

c.29G>A

1 paper

NM_002340.6

p.R26Q

c.77G>A

1 paper

NM_002340.6

p.L27P

c.80T>C

1 paper

NM_002340.6

p.R33W

c.97C>T

1 paper

NM_002340.6

p.W36S

c.107G>C

1 paper

NM_002340.6

p.Y38C

c.113A>G