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.R1104Q

c.3311G>A

Surrounding Variants

7 papers

NM_000081.4

p.R1104*

c.3310C>T

2 papers

NM_000081.4

p.S1096_R1104del9

c.3286_3311del27

1 paper

NM_000081.4

p.E1107_A1108ins9

c.3319_3323ins27

1 paper

NM_000081.4

p.L1100del1

c.3298_3299delAAG

1 paper

NM_000081.4

p.S1099del1

c.3295_3296delTGA

1 paper

NM_000081.4

p.S1099*

c.3296C>G

1 paper

NM_000081.4

p.S1099*

c.3296C>A

1 paper

NM_000081.4

p.T1098I

c.3293C>T

1 paper

NM_000081.4

p.A1111T

c.3331G>A

2 papers

NM_000081.4

p.S1096G

c.3286A>G

1 paper

NM_000081.4

p.G1116V

c.3347G>T

1 paper

NM_000081.4

p.T1092I

c.3275C>T