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.N921S

c.2762A>G

Surrounding Variants

1 paper

NM_000081.4

p.E924K

c.2770G>A

2 papers

NM_000081.4

p.R917delFs

c.2749_2750delCT

2 papers

NM_000081.4

p.R917fs

c.2749_2750fs

2 papers

NM_000081.4

p.R917G

c.2749A>G

1 paper

NM_000081.4

p.E914D

c.2742G>T

1 paper

NM_000081.4

p.E914D

c.2742G>C

1 paper

NM_000081.4

p.E914K

c.2740G>A

1 paper

NM_000081.4

p.Y929insFs

c.2785_2786ins4

2 papers

NM_000081.4

p.Y929_D930insC

c.2785_2789ins3

1 paper

NM_000081.4

p.Y929F

c.2786A>T

1 paper

NM_000081.4

p.Y929fs

c.2785_2786fs

1 paper

NM_000081.4

p.D930Y

c.2788G>T