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.A537V

c.1610C>T

Surrounding Variants

1 paper

NM_000081.4

p.D538G

c.1613A>G

1 paper

NM_000081.4

p.E535*

c.1603G>T

1 paper

NM_000081.4

p.E534V

c.1601A>T

1 paper

NM_000081.4

p.V541I

c.1621G>A

3 papers

NM_000081.4

p.P532L

c.1595C>T

2 papers

NM_000081.4

p.P532T

c.1594C>A

1 paper

NM_000081.4

p.D540_Y542del3

c.1618_1625del9

1 paper

NM_000081.4

p.P544T

c.1630C>A

1 paper

NM_000081.4

p.K530R

c.1589A>G

1 paper

NM_000081.4

p.V528_S529del2

c.1582_1586del6

1 paper

NM_000081.4

p.E545K

c.1633G>A

1 paper

NM_000081.4

p.E545V

c.1634A>T