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

1–12 of 1918 variants

13 papers

NM_000081.4

p.R514*

c.1540C>T

12 papers

NM_000081.4

p.R309*

c.925C>T

12 papers

NM_000081.4

p.R1563H

c.4688G>A

11 papers

NM_000081.4

p.N3376S

c.10127A>G

11 papers

NM_000081.4

p.G3725R

c.11173G>C

11 papers

NM_000081.4

p.G3725R

c.11173G>A

10 papers

NM_000081.4

p.H123R

c.368A>G

10 papers

NM_000081.4

p.K634insFs

c.1902dupA

10 papers

NM_000081.4

p.F874delFs

c.2620delA

10 papers

NM_000081.4

p.V1999D

c.5996T>A

10 papers

NM_000081.4

p.Y2026*

c.6078C>A

10 papers

NM_000081.4

p.K2790Q

c.8368A>C