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.G176C

c.526G>T

Surrounding Variants

1 paper

NM_000081.4

p.G176_I177delins

c.528_529delinsAA

1 paper

NM_000081.4

p.K175R

c.524A>G

1 paper

NM_000081.4

p.G176_I177delFs

c.528_529delTG

1 paper

NM_000081.4

p.D173fs

c.517_518fs

1 paper

NM_000081.4

p.D173delFs

c.517delC

1 paper

NM_000081.4

p.D173N

c.517G>A

1 paper

NM_000081.4

p.M179L

c.535A>T

1 paper

NM_000081.4

p.N180I

c.539A>T

1 paper

NM_000081.4

p.N180S

c.539A>G

1 paper

NM_000081.4

p.N171S

c.512A>G

2 papers

NM_000081.4

p.N171Y

c.511A>T

1 paper

NM_000081.4

p.K181Q

c.541A>C