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.L3688F

c.11062C>T

Surrounding Variants

1 paper

NM_000081.4

p.L3686R

c.11057T>G

1 paper

NM_000081.4

p.G3693W

c.11077G>T

1 paper

NM_000081.4

p.G3693R

c.11077G>C

1 paper

NM_000081.4

p.G3693R

c.11077G>A

2 papers

NM_000081.4

p.A3680fs

c.11038_11039fs

2 papers

NM_000081.4

p.V3696I

c.11086G>A

4 papers

NM_000081.4

p.C3701F

c.11102G>T

1 paper

NM_000081.4

p.C3706Y

c.11117G>A

2 papers

NM_000081.4

p.V3708M

c.11122G>A

1 paper

NM_000081.4

p.G3724E

c.11171G>A

11 papers

NM_000081.4

p.G3725R

c.11173G>C

11 papers

NM_000081.4

p.G3725R

c.11173G>A