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.L188P

c.563T>C

Surrounding Variants

1 paper

NM_000081.4

p.H189Y

c.565C>T

1 paper

NM_000081.4

p.H189L

c.566A>T

1 paper

NM_000081.4

p.H190L

c.569A>T

1 paper

NM_000081.4

p.L188_H189del0

c.562_567del6

1 paper

NM_000081.4

p.R184_P185del2

c.550_554del6

1 paper

NM_000081.4

p.K181_P185del5

c.541_554del15

1 paper

NM_000081.4

p.L192fs

c.574_575fs

1 paper

NM_000081.4

p.R184T

c.551G>C

1 paper

NM_000081.4

p.R184K

c.551G>A

1 paper

NM_000081.4

p.R184W

c.550A>T

1 paper

NM_000081.4

p.L192F

c.576A>C

5 papers

NM_000081.4

p.L192insFs

c.575_576insT