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.L275W

c.824T>G

Surrounding Variants

1 paper

NM_000081.4

p.L275_N276insA

c.823_827ins3

1 paper

NM_000081.4

p.N276Y

c.826A>T

1 paper

NM_000081.4

p.T274A

c.820A>G

1 paper

NM_000081.4

p.D272_V273del2

c.814_818del6

3 papers

NM_000081.4

p.H277L

c.830A>T

1 paper

NM_000081.4

p.D272Y

c.814G>T

1 paper

NM_000081.4

p.S279F

c.836C>T

1 paper

NM_000081.4

p.F271I

c.811T>A

1 paper

NM_000081.4

p.K270delFs

c.808delT

1 paper

NM_000081.4

p.K270*

c.808A>T

1 paper

NM_000081.4

p.C269S

c.805T>A

1 paper

NM_000081.4

p.L281F

c.843A>T