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.E481G

c.1442A>G

Surrounding Variants

1 paper

NM_002340.6

p.H477Q

c.1431C>G

1 paper

NM_002340.6

p.H477Q

c.1431C>A

2 papers

NM_002340.6

p.H477N

c.1429C>A

9 papers

NM_002340.6

p.V487E

c.1460T>A

1 paper

NM_002340.6

p.V474insFs

c.1420_1421insT

1 paper

NM_002340.6

p.H473P

c.1418A>C

8 papers

NM_002340.6

p.H473insFs

c.1417dupC

13 papers

NM_002340.6

p.H473fs

c.1417_1418fs

1 paper

NM_002340.6

p.E469del1

c.1405_1407delCTC

1 paper

NM_002340.6

p.A460V

c.1379C>T

1 paper

NM_002340.6

p.C456Y

c.1367G>A

1 paper

NM_002340.6

p.V453L

c.1357G>C