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.K689*

c.2065A>T

Surrounding Variants

1 paper

NM_000081.4

p.W688*

c.2064G>A

1 paper

NM_000081.4

p.K689I

c.2066A>T

1 paper

NM_000081.4

p.W688*

c.2063G>A

1 paper

NM_000081.4

p.L687V

c.2059T>G

1 paper

NM_000081.4

p.A692V

c.2075C>T

2 papers

NM_000081.4

p.K694N

c.2082G>C

1 paper

NM_000081.4

p.P679_S680insFs

c.2037_2038insG

1 paper

NM_000081.4

p.N698I

c.2093A>T

1 paper

NM_000081.4

p.I677M

c.2031C>G

1 paper

NM_000081.4

p.I677T

c.2030T>C

1 paper

NM_000081.4

p.F674_G676del3

c.2020_2027del9

2 papers

NM_000081.4

p.E703*

c.2107G>T