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.S239G

c.715A>G

Surrounding Variants

1 paper

NM_000081.4

p.S233_L238del6

c.697_713del18

1 paper

NM_000081.4

p.T235_I237del3

c.703_710del9

1 paper

NM_000081.4

p.I237S

c.710T>G

1 paper

NM_000081.4

p.E240del1

c.718_719delCTC

1 paper

NM_000081.4

p.I237F

c.709A>T

2 papers

NM_000081.4

p.D236_I237Fs

c.708_709delinsTFs

1 paper

NM_000081.4

p.P241L

c.722C>T

2 papers

NM_000081.4

p.D236G

c.707A>G

1 paper

NM_000081.4

p.A242_A243insGGC

c.724_728ins9

1 paper

NM_000081.4

p.A243P

c.727G>C

1 paper

NM_000081.4

p.S239_A242del4

c.715_725del12

1 paper

NM_000081.4

p.N234S

c.701A>G