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.E317G

c.950A>G

Surrounding Variants

2 papers

NM_000081.4

p.E317Q

c.949G>C

2 papers

NM_000081.4

p.E317K

c.949G>A

1 paper

NM_000081.4

p.E318insFs

c.952_953insA

1 paper

NM_000081.4

p.E318Q

c.952G>C

1 paper

NM_000081.4

p.E318K

c.952G>A

1 paper

NM_000081.4

p.T316T

c.948C>G

1 paper

NM_000081.4

p.G314_T316Fs

c.941_948delinsAFs

1 paper

NM_000081.4

p.E318V

c.953A>T

1 paper

NM_000081.4

p.E318G

c.953A>G

1 paper

NM_000081.4

p.G314_W315del2

c.940_944del6

1 paper

NM_000081.4

p.W315_T316insFs

c.945_946insC

2 papers

NM_000081.4

p.P319R

c.956C>G