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.S1017_V1018del2

c.3049_3053del6

Surrounding Variants

1 paper

NM_000081.4

p.S1017N

c.3050G>A

1 paper

NM_000081.4

p.Q1022_D1023insT

c.3064_3068ins3

1 paper

NM_000081.4

p.G1010_E1013del4

c.3028_3038del12

2 papers

NM_000081.4

p.L1024V

c.3070T>G

1 paper

NM_000081.4

p.G1014G

c.3042A>G

2 papers

NM_000081.4

p.N1025fs

c.3073_3074fs

1 paper

NM_000081.4

p.E1013V

c.3038A>T

3 papers

NM_000081.4

p.N1025delFs

c.3074delT

3 papers

NM_000081.4

p.N1025delFs

c.3073_3074delTT

1 paper

NM_000081.4

p.R1026*

c.3076A>T

1 paper

NM_000081.4

p.R1026K

c.3077G>A

1 paper

NM_000081.4

p.N1019_N1025del7

c.3055_3074del21