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.S1054G

c.3160A>G

Surrounding Variants

1 paper

NM_000081.4

p.L1052fs

c.3154_3155fs

1 paper

NM_000081.4

p.E1051V

c.3152A>T

1 paper

NM_000081.4

p.E1051K

c.3151G>A

1 paper

NM_000081.4

p.K1057insFs

c.3170dupA

1 paper

NM_000081.4

p.S1058C

c.3172A>T

1 paper

NM_000081.4

p.L1055_K1057del3

c.3163_3170del9

1 paper

NM_000081.4

p.A1059_D1060insT

c.3175_3179ins3

1 paper

NM_000081.4

p.D1060N

c.3178G>A

1 paper

NM_000081.4

p.A1059del1

c.3175_3176delAGC

1 paper

NM_000081.4

p.G1063D

c.3188G>A

1 paper

NM_000081.4

p.K1044*

c.3130A>T

1 paper

NM_000081.4

p.K1044_S1045insA

c.3130_3134ins3