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.E125V

c.374A>T

Surrounding Variants

2 papers

NM_000081.4

p.E125G

c.374A>G

2 papers

NM_000081.4

p.E125Q

c.373G>C

1 paper

NM_000081.4

p.G126*

c.376G>T

1 paper

NM_000081.4

p.G126R

c.376G>A

2 papers

NM_000081.4

p.L124S

c.371T>C

2 papers

NM_000081.4

p.L124V

c.370T>G

1 paper

NM_000081.4

p.H123del1

c.367_368delATG

2 papers

NM_000081.4

p.G126delFs

c.377delC

1 paper

NM_000081.4

p.H123delFs

c.367_368delTG

1 paper

NM_000081.4

p.G126_S127delFs

c.378_379delTT

10 papers

NM_000081.4

p.H123R

c.368A>G

1 paper

NM_000081.4

p.S127R

c.381T>A