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.V854_G855del2

c.2560_2564del6

Surrounding Variants

1 paper

NM_000081.4

p.H853_G855del3

c.2557_2564del9

3 papers

NM_000081.4

p.S857C

c.2570C>G

1 paper

NM_000081.4

p.H853Y

c.2557C>T

1 paper

NM_000081.4

p.H859N

c.2575C>A

1 paper

NM_000081.4

p.H860L

c.2579A>T

1 paper

NM_000081.4

p.S851Y

c.2552C>A

1 paper

NM_000081.4

p.H860_A863del4

c.2578_2588del12

1 paper

NM_000081.4

p.D843N

c.2527G>A

1 paper

NM_000081.4

p.Q869*

c.2605C>T

1 paper

NM_000081.4

p.Q869L

c.2606A>T

1 paper

NM_000081.4

p.S872N

c.2615G>A

1 paper

NM_000081.4

p.K873E

c.2617A>G