Varaico: Literature-Extracted Genetic Variants

LYST

579 papers

RefSeq Summary

This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a l...

Pfam Domains

PH_BEACHaa 3020–3115UCSCPH domain associated with Beige/BEACH

Beachaa 3133–3422UCSCBeige/BEACH domain

WD40aa 3606–3644UCSCWD domain, G-beta repeat

WD40aa 3740–3779UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

lysosomal trafficking regulator

HGNC Previous Symbol

CHS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000081.4

p.A465_S466del2

c.1393_1397del6

Surrounding Variants

1 paper

NM_000081.4

p.H468_L469ins4

c.1402_1406ins12

1 paper

NM_000081.4

p.E464_A465del2

c.1390_1394del6

2 papers

NM_000081.4

p.L469*

c.1406T>A

1 paper

NM_000081.4

p.E464D

c.1392G>T

1 paper

NM_000081.4

p.E464D

c.1392G>C

1 paper

NM_000081.4

p.K470*

c.1408A>T

2 papers

NM_000081.4

p.A471S

c.1411G>T

1 paper

NM_000081.4

p.K470delFs

c.1408delT

2 papers

NM_000081.4

p.A471V

c.1412C>T

1 paper

NM_000081.4

p.P463T

c.1387C>A

1 paper

NM_000081.4

p.P462_P463insFs

c.1386_1387insAA

1 paper

NM_000081.4

p.P462H

c.1385C>A