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.E317_L322del6

c.949_965del18

Surrounding Variants

1 paper

NM_000081.4

p.L322*

c.965T>A

1 paper

NM_000081.4

p.P319_A321del3

c.955_962del9

1 paper

NM_000081.4

p.Q324*

c.970C>T

1 paper

NM_000081.4

p.R325W

c.973A>T

1 paper

NM_000081.4

p.R325insFs

c.974_975insC

1 paper

NM_000081.4

p.M326insFs

c.977_978insC

2 papers

NM_000081.4

p.P319R

c.956C>G

1 paper

NM_000081.4

p.L327F

c.979C>T

1 paper

NM_000081.4

p.L327H

c.980T>A

1 paper

NM_000081.4

p.E318V

c.953A>T

1 paper

NM_000081.4

p.E318G

c.953A>G

1 paper

NM_000081.4

p.E318insFs

c.952_953insA