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

2 papers

NM_000081.4

p.K181N

c.543G>C

Surrounding Variants

2 papers

NM_000081.4

p.K181N

c.543G>T

1 paper

NM_000081.4

p.N180_K181del1

c.540_542delTTA

1 paper

NM_000081.4

p.K181M

c.542A>T

1 paper

NM_000081.4

p.H182R

c.545A>G

1 paper

NM_000081.4

p.K181Q

c.541A>C

1 paper

NM_000081.4

p.R183*

c.547A>T

1 paper

NM_000081.4

p.N180I

c.539A>T

1 paper

NM_000081.4

p.N180S

c.539A>G

1 paper

NM_000081.4

p.R184W

c.550A>T

1 paper

NM_000081.4

p.R183delFs

c.547_548delCT

1 paper

NM_000081.4

p.H182_R183del2

c.544_548del6

1 paper

NM_000081.4

p.R184T

c.551G>C