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

10 papers

NM_000081.4

p.Y2026*

c.6078C>A

Surrounding Variants

9 papers

NM_000081.4

p.Y2026*

c.6078C>G

2 papers

NM_000081.4

p.Y2026fs

c.6076_6077fs

5 papers

NM_000081.4

p.Y2026insFs

c.6077_6078insA

1 paper

NM_000081.4

p.Y2026insFs

c.6077_6078insAA

6 papers

NM_000081.4

p.V2027L

c.6079G>C

1 paper

NM_000081.4

p.V2027I

c.6079G>A

1 paper

NM_000081.4

p.T2025_Y2026delFs

c.6075_6078del4

1 paper

NM_000081.4

p.P2022_Y2026del5

c.6064_6077del15

1 paper

NM_000081.4

p.Y2026fs

c.6076_6077fs

1 paper

NM_000081.4

p.N2030K

c.6090T>G

1 paper

NM_000081.4

p.N2030K

c.6090T>A

1 paper

NM_000081.4

p.T2032M

c.6095C>T