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.A158V

c.473C>T

Surrounding Variants

1 paper

NM_000081.4

p.D157fs

c.469_470fs

1 paper

NM_000081.4

p.R159*

c.475A>T

1 paper

NM_000081.4

p.R159K

c.476G>A

1 paper

NM_000081.4

p.D157N

c.469G>A

1 paper

NM_000081.4

p.R156S

c.468A>T

1 paper

NM_000081.4

p.R156S

c.468A>C

1 paper

NM_000081.4

p.R156T

c.467G>C

1 paper

NM_000081.4

p.V155_R156delFs

c.465_466delTT

1 paper

NM_000081.4

p.V155del1

c.463_464delTAC

2 papers

NM_000081.4

p.T161S

c.481A>T

2 papers

NM_000081.4

p.T161A

c.481A>G

1 paper

NM_000081.4

p.V155E

c.464T>A