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

8 papers

NM_000081.4

p.E489delFs

c.1467delC

Surrounding Variants

2 papers

NM_000081.4

p.E489fs

c.1465_1466fs

1 paper

NM_000081.4

p.S488L

c.1463C>T

3 papers

NM_000081.4

p.S488*

c.1463C>G

3 papers

NM_000081.4

p.S488*

c.1463C>A

2 papers

NM_000081.4

p.H493Y

c.1477C>T

1 paper

NM_000081.4

p.V486V

c.1458G>A

1 paper

NM_000081.4

p.V486L

c.1456G>T

1 paper

NM_000081.4

p.V486L

c.1456G>C

1 paper

NM_000081.4

p.K484delFs

c.1451delT

2 papers

NM_000081.4

p.S494L

c.1481C>T

1 paper

NM_000081.4

p.L491_S494del4

c.1471_1481del12

1 paper

NM_000081.4

p.K484fs

c.1450_1451fs