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

1–12 of 231 variants

20 papers

NM_002340.6

p.I342S

c.1025T>G

18 papers

NM_002340.6

p.G588S

c.1762G>A

16 papers

NM_002340.6

p.W581R

c.1741T>C

16 papers

NM_002340.6

p.W581R

c.1741T>A

16 papers

NM_002340.6

p.W629C

c.1887G>T

16 papers

NM_002340.6

p.W629C

c.1887G>C

13 papers

NM_002340.6

p.G12D

c.35G>A

13 papers

NM_002340.6

p.W141*

c.423G>A

13 papers

NM_002340.6

p.R177Q

c.530G>A

13 papers

NM_002340.6

p.R435C

c.1303C>T

13 papers

NM_002340.6

p.H473fs

c.1417_1418fs

13 papers

NM_002340.6

p.N516S

c.1547A>G