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.R177Q

c.530G>A

Surrounding Variants

1 paper

NM_002340.6

p.R175R

c.525A>C

1 paper

NM_002340.6

p.R175Q

c.524G>A

3 papers

NM_002340.6

p.R175*

c.523C>T

2 papers

NM_002340.6

p.G165_V174delFs

c.493_520del28

1 paper

NM_002340.6

p.L173Q

c.518T>A

1 paper

NM_002340.6

p.D172A

c.515A>C

1 paper

NM_002340.6

p.D170N

c.508G>A

1 paper

NM_002340.6

p.G165fs

c.493_494fs

1 paper

NM_002340.6

p.G165G

c.495T>A

1 paper

NM_002340.6

p.L164Q

c.491T>A

1 paper

NM_002340.6

p.R162R

c.486A>G

1 paper

NM_002340.6

p.N157S

c.470A>G