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.I619_L620ins4

c.1855_1859ins12

Surrounding Variants

1 paper

NM_000081.4

p.K617E

c.1849A>G

1 paper

NM_000081.4

p.N616S

c.1847A>G

1 paper

NM_000081.4

p.L615fs

c.1843_1844fs

1 paper

NM_000081.4

p.L623*

c.1868T>G

1 paper

NM_000081.4

p.L623*

c.1868T>A

1 paper

NM_000081.4

p.H610_I611del2

c.1828_1832del6

1 paper

NM_000081.4

p.E627G

c.1880A>G

1 paper

NM_000081.4

p.G625_A626del2

c.1873_1877del6

4 papers

NM_000081.4

p.H610L

c.1829A>T

1 paper

NM_000081.4

p.H610Y

c.1828C>T

1 paper

NM_000081.4

p.Q609L

c.1826A>T

1 paper

NM_000081.4

p.Q609*

c.1825C>T