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.R141R

c.423A>G

Surrounding Variants

1 paper

NM_000081.4

p.K142*

c.424A>T

1 paper

NM_000081.4

p.R141G

c.421C>G

1 paper

NM_000081.4

p.V139delFs

c.416delA

1 paper

NM_000081.4

p.S143C

c.427A>T

1 paper

NM_000081.4

p.F140_R141insT

c.418_422ins3

1 paper

NM_000081.4

p.R141_K142del1

c.423_425delTTT

1 paper

NM_000081.4

p.R144*

c.430A>T

1 paper

NM_000081.4

p.V139L

c.415G>C

1 paper

NM_000081.4

p.V139I

c.415G>A

3 papers

NM_000081.4

p.R145*

c.433C>T

1 paper

NM_000081.4

p.R145Q

c.434G>A

1 paper

NM_000081.4

p.N138Y

c.412A>T