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.P883A

c.2647C>G

Surrounding Variants

1 paper

NM_000081.4

p.R885*

c.2653A>T

2 papers

NM_000081.4

p.E880G

c.2639A>G

1 paper

NM_000081.4

p.R886fs

c.2656_2657fs

1 paper

NM_000081.4

p.K879del1

c.2635_2637delTTT

1 paper

NM_000081.4

p.R885insFs

c.2655dupA

1 paper

NM_000081.4

p.R886Q

c.2657G>A

1 paper

NM_000081.4

p.A876V

c.2627C>T

1 paper

NM_000081.4

p.Y875C

c.2624A>G

10 papers

NM_000081.4

p.F874delFs

c.2620delA

2 papers

NM_000081.4

p.Y875fs

c.2623_2624fs

1 paper

NM_000081.4

p.F874delins

c.2621_2622delinsAA

1 paper

NM_000081.4

p.F874_Y875insT

c.2620_2624ins3