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.F901L

c.2703C>A

Surrounding Variants

2 papers

NM_000081.4

p.F901L

c.2703C>G

2 papers

NM_000081.4

p.F901L

c.2701T>C

1 paper

NM_000081.4

p.L902L

c.2706C>G

1 paper

NM_000081.4

p.L900V

c.2698C>G

1 paper

NM_000081.4

p.L907fs

c.2719_2720fs

2 papers

NM_000081.4

p.V909I

c.2725G>A

1 paper

NM_000081.4

p.H894L

c.2681A>T

1 paper

NM_000081.4

p.V893del1

c.2677_2678delAAC

1 paper

NM_000081.4

p.V893I

c.2677G>A

1 paper

NM_000081.4

p.E912G

c.2735A>G

1 paper

NM_000081.4

p.E912D

c.2736A>T

1 paper

NM_000081.4

p.E914K

c.2740G>A