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.E387D

c.1161A>T

Surrounding Variants

1 paper

NM_000081.4

p.Q386_E387del2

c.1156_1160del6

2 papers

NM_000081.4

p.V390fs

c.1168_1169fs

2 papers

NM_000081.4

p.V390delFs

c.1168delC

1 paper

NM_000081.4

p.V385F

c.1153G>T

1 paper

NM_000081.4

p.E384V

c.1151A>T

1 paper

NM_000081.4

p.E384G

c.1151A>G

1 paper

NM_000081.4

p.V390_F391delFs

c.1170_1171delAC

1 paper

NM_000081.4

p.E384_V385insT

c.1150_1154ins3

2 papers

NM_000081.4

p.Q383H

c.1149G>T

2 papers

NM_000081.4

p.Q383H

c.1149G>C

1 paper

NM_000081.4

p.S392T

c.1174T>A

1 paper

NM_000081.4

p.S392fs

c.1174_1175fs