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.C583insFs

c.1749dupC

Surrounding Variants

1 paper

NM_000081.4

p.C583S

c.1748G>C

1 paper

NM_000081.4

p.C583S

c.1747T>A

1 paper

NM_000081.4

p.G581E

c.1742G>A

1 paper

NM_000081.4

p.H578R

c.1733A>G

1 paper

NM_000081.4

p.V591L

c.1771G>T

1 paper

NM_000081.4

p.V591L

c.1771G>C

1 paper

NM_000081.4

p.V591I

c.1771G>A

1 paper

NM_000081.4

p.S575L

c.1724C>T

1 paper

NM_000081.4

p.S575_G576insT

c.1723_1727ins3

1 paper

NM_000081.4

p.I573fs

c.1717_1718fs

1 paper

NM_000081.4

p.L595*

c.1784T>A

1 paper

NM_000081.4

p.C570_V571del2

c.1708_1712del6