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

3 papers

NM_000081.4

p.L647R

c.1940T>G

Surrounding Variants

1 paper

NM_000081.4

p.Q646E

c.1936C>G

1 paper

NM_000081.4

p.Q649E

c.1945C>G

1 paper

NM_000081.4

p.D645G

c.1934A>G

1 paper

NM_000081.4

p.L654L

c.1960C>T

1 paper

NM_000081.4

p.C640S

c.1918T>A

1 paper

NM_000081.4

p.Q655L

c.1964A>T

1 paper

NM_000081.4

p.G656A

c.1967G>C

1 paper

NM_000081.4

p.G656E

c.1967G>A

2 papers

NM_000081.4

p.C659R

c.1975T>C

10 papers

NM_000081.4

p.K634insFs

c.1902dupA

3 papers

NM_000081.4

p.A635fs

c.1903_1904fs

3 papers

NM_000081.4

p.K634N

c.1902A>T