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.E212K

c.634G>A

Surrounding Variants

1 paper

NM_000081.4

p.E212V

c.635A>T

1 paper

NM_000081.4

p.K211N

c.633A>T

1 paper

NM_000081.4

p.K211N

c.633A>C

2 papers

NM_000081.4

p.E212D

c.636A>T

1 paper

NM_000081.4

p.E212E

c.636A>G

1 paper

NM_000081.4

p.T210del1

c.628_629delGGT

1 paper

NM_000081.4

p.Q213*

c.637C>T

2 papers

NM_000081.4

p.T214A

c.640A>G

1 paper

NM_000081.4

p.A209del1

c.625_626delTGC

2 papers

NM_000081.4

p.D217H

c.649G>C

1 paper

NM_000081.4

p.K204del1

c.610_611delTTT

1 paper

NM_000081.4

p.A220P

c.658G>C