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.S835*

c.2504C>G

Surrounding Variants

1 paper

NM_000081.4

p.S835*

c.2504C>A

1 paper

NM_000081.4

p.D843N

c.2527G>A

2 papers

NM_000081.4

p.I825T

c.2474T>C

1 paper

NM_000081.4

p.I824K

c.2471T>A

2 papers

NM_000081.4

p.L823V

c.2467C>G

1 paper

NM_000081.4

p.T822I

c.2465C>T

1 paper

NM_000081.4

p.E821Q

c.2461G>C

1 paper

NM_000081.4

p.F820L

c.2460T>G

1 paper

NM_000081.4

p.F820L

c.2460T>A

1 paper

NM_000081.4

p.F820L

c.2458T>C

1 paper

NM_000081.4

p.S814_A819del6

c.2440_2456del18

1 paper

NM_000081.4

p.S851Y

c.2552C>A