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.S475R

c.1425T>A

Surrounding Variants

1 paper

NM_000081.4

p.S475R

c.1425T>G

1 paper

NM_000081.4

p.S475R

c.1423A>C

1 paper

NM_000081.4

p.M477I

c.1431G>A

1 paper

NM_000081.4

p.K478T

c.1433A>C

1 paper

NM_000081.4

p.I479L

c.1435A>C

2 papers

NM_000081.4

p.A471V

c.1412C>T

2 papers

NM_000081.4

p.A471S

c.1411G>T

1 paper

NM_000081.4

p.K470delFs

c.1408delT

1 paper

NM_000081.4

p.K470*

c.1408A>T

2 papers

NM_000081.4

p.L469*

c.1406T>A

1 paper

NM_000081.4

p.T482insFs

c.1445_1446insC

1 paper

NM_000081.4

p.V483A

c.1448T>C