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.S669R

c.2007T>G

Surrounding Variants

1 paper

NM_000081.4

p.S669R

c.2007T>A

1 paper

NM_000081.4

p.S669R

c.2005A>C

1 paper

NM_000081.4

p.S666del1

c.1996_1997delACT

2 papers

NM_000081.4

p.Y672*

c.2016C>G

2 papers

NM_000081.4

p.Y672insFs

c.2015dupA

2 papers

NM_000081.4

p.Y672*

c.2016C>A

2 papers

NM_000081.4

p.Y672insFs

c.2016dupC

2 papers

NM_000081.4

p.R673fs

c.2017_2018fs

1 paper

NM_000081.4

p.S671_Y672del2

c.2011_2015del6

1 paper

NM_000081.4

p.R673K

c.2018G>A

1 paper

NM_000081.4

p.S666G

c.1996A>G

1 paper

NM_000081.4

p.S664_S665del1

c.1992_1994delGAG