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.I970fs

c.2908_2909fs

Surrounding Variants

1 paper

NM_000081.4

p.I970L

c.2908A>C

1 paper

NM_000081.4

p.M966_R968delins

c.2897_2902delinsCAT

1 paper

NM_000081.4

p.L973S

c.2918T>C

1 paper

NM_000081.4

p.F977_Q978insC

c.2929_2933ins3

1 paper

NM_000081.4

p.F977S

c.2930T>C

1 paper

NM_000081.4

p.Q980H

c.2940G>T

1 paper

NM_000081.4

p.Q980H

c.2940G>C

1 paper

NM_000081.4

p.F981V

c.2941T>G

1 paper

NM_000081.4

p.G985C

c.2953G>T

1 paper

NM_000081.4

p.G986G

c.2958T>C

2 papers

NM_000081.4

p.R988*

c.2962C>T

1 paper

NM_000081.4

p.P952_S953insA

c.2854_2858ins3