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.E435*

c.1303G>T

Surrounding Variants

1 paper

NM_000081.4

p.E435V

c.1304A>T

1 paper

NM_000081.4

p.Q434Q

c.1302A>G

1 paper

NM_000081.4

p.Q434L

c.1301A>T

1 paper

NM_000081.4

p.Q434R

c.1301A>G

1 paper

NM_000081.4

p.F436_I437delFs

c.1308_1309delTG

1 paper

NM_000081.4

p.L432S

c.1295T>C

2 papers

NM_000081.4

p.Q438E

c.1312C>G

1 paper

NM_000081.4

p.M430insFs

c.1289_1290insG

1 paper

NM_000081.4

p.M430insFs

c.1288_1289insG

1 paper

NM_000081.4

p.G441E

c.1322G>A

1 paper

NM_000081.4

p.Q428Q

c.1284A>G

2 papers

NM_000081.4

p.F442I

c.1324T>A