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.N723S

c.2168A>G

Surrounding Variants

1 paper

NM_000081.4

p.G722D

c.2165G>A

1 paper

NM_000081.4

p.G722S

c.2164G>A

3 papers

NM_000081.4

p.I724M

c.2172A>G

1 paper

NM_000081.4

p.Q720R

c.2159A>G

1 paper

NM_000081.4

p.Q720*

c.2158C>T

1 paper

NM_000081.4

p.L718_I719del2

c.2152_2156del6

1 paper

NM_000081.4

p.I719V

c.2155A>G

1 paper

NM_000081.4

p.L718L

c.2154A>G

1 paper

NM_000081.4

p.Y731C

c.2192A>G

1 paper

NM_000081.4

p.H714R

c.2141A>G

1 paper

NM_000081.4

p.N698_A712del15

c.2092_2135del45

1 paper

NM_000081.4

p.I734T

c.2201T>C