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

2 papers

NM_000081.4

p.E169D

c.507A>T

Surrounding Variants

1 paper

NM_000081.4

p.S168_E169delFs

c.503_507del5

1 paper

NM_000081.4

p.E169V

c.506A>T

1 paper

NM_000081.4

p.S168del1

c.502_503delTGA

1 paper

NM_000081.4

p.A170A

c.510C>T

1 paper

NM_000081.4

p.S168S

c.504A>G

2 papers

NM_000081.4

p.N171Y

c.511A>T

1 paper

NM_000081.4

p.N171S

c.512A>G

2 papers

NM_000081.4

p.D167V

c.500A>T

1 paper

NM_000081.4

p.D167Y

c.499G>T

1 paper

NM_000081.4

p.D173N

c.517G>A

2 papers

NM_000081.4

p.S166*

c.497C>G

2 papers

NM_000081.4

p.S166*

c.497C>A