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.R377del1

c.1129_1130delTCT

Surrounding Variants

1 paper

NM_000081.4

p.R377*

c.1129A>T

1 paper

NM_000081.4

p.K379M

c.1136A>T

1 paper

NM_000081.4

p.P376A

c.1126C>G

1 paper

NM_000081.4

p.P376T

c.1126C>A

1 paper

NM_000081.4

p.K380*

c.1138A>T

1 paper

NM_000081.4

p.Q378_K379del2

c.1132_1136del6

1 paper

NM_000081.4

p.T381S

c.1141A>T

1 paper

NM_000081.4

p.T381A

c.1141A>G

1 paper

NM_000081.4

p.F374_A375insT

c.1120_1124ins3

1 paper

NM_000081.4

p.P373T

c.1117C>A

2 papers

NM_000081.4

p.Q383H

c.1149G>T

2 papers

NM_000081.4

p.Q383H

c.1149G>C