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.K1011*

c.3031A>T

Surrounding Variants

1 paper

NM_000081.4

p.K1012_E1013insT

c.3034_3038ins3

1 paper

NM_000081.4

p.Q1009K

c.3025C>A

1 paper

NM_000081.4

p.E1013V

c.3038A>T

1 paper

NM_000081.4

p.G1014G

c.3042A>G

1 paper

NM_000081.4

p.G1010_E1013del4

c.3028_3038del12

1 paper

NM_000081.4

p.K1006delFs

c.3017_3018delTT

1 paper

NM_000081.4

p.K1006fs

c.3016_3017fs

1 paper

NM_000081.4

p.H1005H

c.3015C>T

1 paper

NM_000081.4

p.S1017N

c.3050G>A

1 paper

NM_000081.4

p.R1003S

c.3009A>T

1 paper

NM_000081.4

p.S1017_V1018del2

c.3049_3053del6

1 paper

NM_000081.4

p.Q1022_D1023insT

c.3064_3068ins3