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.F96L

c.288T>A

Surrounding Variants

1 paper

NM_000081.4

p.D95_F96delFs

c.284_287del4

1 paper

NM_000081.4

p.F96delFs

c.287_288delAA

1 paper

NM_000081.4

p.N97I

c.290A>T

1 paper

NM_000081.4

p.N97S

c.290A>G

1 paper

NM_000081.4

p.L98L

c.292C>T

2 papers

NM_000081.4

p.D95Y

c.283G>T

2 papers

NM_000081.4

p.L100F

c.298C>T

1 paper

NM_000081.4

p.S101L

c.302C>T

1 paper

NM_000081.4

p.A102S

c.304G>T

1 paper

NM_000081.4

p.A102T

c.304G>A

1 paper

NM_000081.4

p.P99_S101del3

c.295_302del9

1 paper

NM_000081.4

p.D103N

c.307G>A