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

4 papers

NM_000081.4

p.Q771*

c.2311C>T

Surrounding Variants

2 papers

NM_000081.4

p.Q771K

c.2311C>A

2 papers

NM_000081.4

p.D772H

c.2314G>C

1 paper

NM_000081.4

p.P770_Q771delFs

c.2310_2313del4

1 paper

NM_000081.4

p.C768W

c.2304C>G

1 paper

NM_000081.4

p.Q775*

c.2323C>T

1 paper

NM_000081.4

p.Q775K

c.2323C>A

1 paper

NM_000081.4

p.H765Y

c.2293C>T

2 papers

NM_000081.4

p.S763C

c.2287A>T

1 paper

NM_000081.4

p.T780S

c.2338A>T

1 paper

NM_000081.4

p.T780P

c.2338A>C

1 paper

NM_000081.4

p.V761L

c.2281G>C

1 paper

NM_000081.4

p.L781P

c.2342T>C