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.N516S

c.1547A>G

Surrounding Variants

1 paper

NM_002340.6

p.N516N

c.1548C>T

3 papers

NM_002340.6

p.L511insFs

c.1531_1532insT

1 paper

NM_002340.6

p.H510_L511insFs

c.1530_1531insC

2 papers

NM_002340.6

p.L511fs

c.1531_1532fs

1 paper

NM_002340.6

p.G522R

c.1564G>A

1 paper

NM_002340.6

p.G508E

c.1523G>A

6 papers

NM_002340.6

p.G508W

c.1522G>T

2 papers

NM_002340.6

p.G508R

c.1522G>C

4 papers

NM_002340.6

p.G508R

c.1522G>A

1 paper

NM_002340.6

p.G522Splc

c.1564+10C>T

1 paper

NM_002340.6

p.R507C

c.1519C>T

1 paper

NM_002340.6

p.Y503*

c.1509T>G