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.E805fs

c.2413_2414fs

Surrounding Variants

8 papers

NM_000081.4

p.E805delFs

c.2413delC

2 papers

NM_000081.4

p.E805*

c.2413G>T

2 papers

NM_000081.4

p.E805fs

c.2413_2414fs

1 paper

NM_000081.4

p.I804F

c.2410A>T

1 paper

NM_000081.4

p.C808del1

c.2422_2423delGCA

1 paper

NM_000081.4

p.S801C

c.2401A>T

3 papers

NM_000081.4

p.R813*

c.2437C>T

1 paper

NM_000081.4

p.R813Q

c.2438G>A

1 paper

NM_000081.4

p.C797S

c.2389T>A

1 paper

NM_000081.4

p.K818I

c.2453A>T

3 papers

NM_000081.4

p.D792delFs

c.2374_2375delTC

2 papers

NM_000081.4

p.A819T

c.2455G>A