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.P423_Y425delFs

c.1268_1275del8

Surrounding Variants

1 paper

NM_000081.4

p.P423_Y425del3

c.1267_1274del9

2 papers

NM_000081.4

p.S427N

c.1280G>A

1 paper

NM_000081.4

p.S427delFs

c.1280delC

1 paper

NM_000081.4

p.F424I

c.1270T>A

1 paper

NM_000081.4

p.Q428Q

c.1284A>G

1 paper

NM_000081.4

p.M430insFs

c.1288_1289insG

1 paper

NM_000081.4

p.M430insFs

c.1289_1290insG

1 paper

NM_000081.4

p.A420V

c.1259C>T

1 paper

NM_000081.4

p.A420T

c.1258G>A

1 paper

NM_000081.4

p.L432S

c.1295T>C

1 paper

NM_000081.4

p.S418delFs

c.1253delC

1 paper

NM_000081.4

p.Q434L

c.1301A>T