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.E406*

c.1216G>T

Surrounding Variants

1 paper

NM_000081.4

p.E406K

c.1216G>A

1 paper

NM_000081.4

p.E403_L404del2

c.1207_1211del6

1 paper

NM_000081.4

p.L404F

c.1210C>T

1 paper

NM_000081.4

p.P402fs

c.1204_1205fs

1 paper

NM_000081.4

p.Q410*

c.1228C>T

1 paper

NM_000081.4

p.Q410L

c.1229A>T

1 paper

NM_000081.4

p.L412Q

c.1235T>A

1 paper

NM_000081.4

p.L399V

c.1195C>G

2 papers

NM_000081.4

p.L399I

c.1195C>A

2 papers

NM_000081.4

p.C414R

c.1240T>C

1 paper

NM_000081.4

p.A398fs

c.1192_1193fs

1 paper

NM_000081.4

p.R397_A398insFs

c.1191_1192insTG