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

13 papers

NM_002340.6

p.R435C

c.1303C>T

Surrounding Variants

1 paper

NM_002340.6

p.Q436*

c.1306C>T

1 paper

NM_002340.6

p.Q436R

c.1307A>G

1 paper

NM_002340.6

p.P424A

c.1270C>G

1 paper

NM_002340.6

p.S443P

c.1327T>C

1 paper

NM_002340.6

p.T446fs

c.1336_1337fs

1 paper

NM_002340.6

p.S445insFs

c.1335dupT

1 paper

NM_002340.6

p.L447L

c.1339C>T

1 paper

NM_002340.6

p.V453L

c.1357G>C

2 papers

NM_002340.6

p.V453I

c.1357G>A

1 paper

NM_002340.6

p.C456Y

c.1367G>A

1 paper

NM_002340.6

p.A460V

c.1379C>T

1 paper

NM_002340.6

p.E469del1

c.1405_1407delCTC