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.N111I

c.332A>T

Surrounding Variants

2 papers

NM_000081.4

p.N111Y

c.331A>T

1 paper

NM_000081.4

p.N111D

c.331A>G

1 paper

NM_000081.4

p.K110N

c.330G>T

1 paper

NM_000081.4

p.K110N

c.330G>C

1 paper

NM_000081.4

p.K110R

c.329A>G

1 paper

NM_000081.4

p.S112S

c.336A>T

3 papers

NM_000081.4

p.S113fs

c.337_338fs

1 paper

NM_000081.4

p.E109fs

c.325_326fs

2 papers

NM_000081.4

p.S113N

c.338G>A

1 paper

NM_000081.4

p.E109V

c.326A>T

1 paper

NM_000081.4

p.S113Fs

c.338_339delinsAGATCTTTGAGTGFs

2 papers

NM_000081.4

p.S113Fs

c.338_339delinsAGATCTTTGAGTGGAFs