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.A282A

c.846A>T

Surrounding Variants

1 paper

NM_000081.4

p.A283T

c.847G>A

1 paper

NM_000081.4

p.A282V

c.845C>T

1 paper

NM_000081.4

p.A282S

c.844G>T

1 paper

NM_000081.4

p.L281F

c.843A>T

1 paper

NM_000081.4

p.V286M

c.856G>A

1 paper

NM_000081.4

p.V285delFs

c.854_855delTA

1 paper

NM_000081.4

p.S279F

c.836C>T

1 paper

NM_000081.4

p.V285del1

c.853_855delTAC

1 paper

NM_000081.4

p.P287S

c.859C>T

3 papers

NM_000081.4

p.H277L

c.830A>T

1 paper

NM_000081.4

p.S284_T288del0

c.851_862del12

1 paper

NM_000081.4

p.P287_T288del2

c.859_863del6