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.P254A

c.760C>G

Surrounding Variants

1 paper

NM_000081.4

p.F255L

c.763T>C

1 paper

NM_000081.4

p.N249_N252del4

c.745_755del12

2 papers

NM_000081.4

p.N252S

c.755A>G

1 paper

NM_000081.4

p.S248_N251del4

c.742_752del12

1 paper

NM_000081.4

p.M250I

c.750G>A

1 paper

NM_000081.4

p.M250delFs

c.748_749delAT

8 papers

NM_000081.4

p.C258R

c.772T>C

1 paper

NM_000081.4

p.N249fs

c.745_746fs

1 paper

NM_000081.4

p.N249I

c.746A>T

1 paper

NM_000081.4

p.N249S

c.746A>G

2 papers

NM_000081.4

p.V260I

c.778G>A

1 paper

NM_000081.4

p.S248C

c.742A>T