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.R147_K148delFs

c.440_443del4

Surrounding Variants

1 paper

NM_000081.4

p.K148I

c.443A>T

1 paper

NM_000081.4

p.I149insFs

c.445_446insA

1 paper

NM_000081.4

p.I149fs

c.445_446fs

1 paper

NM_000081.4

p.R147H

c.440G>A

1 paper

NM_000081.4

p.T150S

c.448A>T

1 paper

NM_000081.4

p.F140_Q146del7

c.418_437del21

1 paper

NM_000081.4

p.Q146L

c.437A>T

6 papers

NM_000081.4

p.H151R

c.452A>G

1 paper

NM_000081.4

p.R145_T150del6

c.433_449del18

1 paper

NM_000081.4

p.R145R

c.435A>T

1 paper

NM_000081.4

p.R145Q

c.434G>A

1 paper

NM_000081.4

p.R152C

c.454C>T