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.G232E

c.695G>A

Surrounding Variants

2 papers

NM_000081.4

p.G232A

c.695G>C

1 paper

NM_000081.4

p.Q231R

c.692A>G

1 paper

NM_000081.4

p.S233S

c.699A>T

1 paper

NM_000081.4

p.R230S

c.690A>T

1 paper

NM_000081.4

p.R230S

c.690A>C

1 paper

NM_000081.4

p.R230I

c.689G>T

1 paper

NM_000081.4

p.R230K

c.689G>A

1 paper

NM_000081.4

p.N234S

c.701A>G

2 papers

NM_000081.4

p.R230G

c.688A>G

2 papers

NM_000081.4

p.P229S

c.685C>T

2 papers

NM_000081.4

p.D236G

c.707A>G

1 paper

NM_000081.4

p.I228F

c.682A>T