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.A3374_N3376delFs

c.10120_10127del8

Surrounding Variants

11 papers

NM_000081.4

p.N3376S

c.10127A>G

1 paper

NM_000081.4

p.A3374fs

c.10120_10121fs

1 paper

NM_000081.4

p.G3368_A3381delFs

c.10103_10143del41

1 paper

NM_000081.4

p.G3368G

c.10104G>T

2 papers

NM_000081.4

p.K3367delFs

c.10100delT

1 paper

NM_000081.4

p.K3367fs

c.10099_10100fs

1 paper

NM_000081.4

p.K3365N

c.10095G>T

2 papers

NM_000081.4

p.K3365N

c.10095G>C

1 paper

NM_000081.4

p.I3354T

c.10061T>C

2 papers

NM_000081.4

p.R3342W

c.10024C>T

1 paper

NM_000081.4

p.H3341R

c.10022A>G

1 paper

NM_000081.4

p.R3335H

c.10004G>A