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.F195L

c.585T>G

Surrounding Variants

1 paper

NM_000081.4

p.F195L

c.585T>A

1 paper

NM_000081.4

p.F195_P196insA

c.583_587ins3

1 paper

NM_000081.4

p.F195L

c.583T>C

1 paper

NM_000081.4

p.T193T

c.579A>T

1 paper

NM_000081.4

p.Q198E

c.592C>G

1 paper

NM_000081.4

p.T193A

c.577A>G

1 paper

NM_000081.4

p.L192F

c.576A>C

5 papers

NM_000081.4

p.L192insFs

c.575_576insT

1 paper

NM_000081.4

p.H190_F191delFs

c.570_571delAA

1 paper

NM_000081.4

p.L192fs

c.574_575fs

1 paper

NM_000081.4

p.D199E

c.597C>G

1 paper

NM_000081.4

p.D199E

c.597C>A