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.K202N

c.606A>C

Surrounding Variants

1 paper

NM_000081.4

p.K202N

c.606A>T

1 paper

NM_000081.4

p.A203A

c.609T>A

1 paper

NM_000081.4

p.P201L

c.602C>T

1 paper

NM_000081.4

p.K204*

c.610A>T

1 paper

NM_000081.4

p.K204E

c.610A>G

2 papers

NM_000081.4

p.P201T

c.601C>A

1 paper

NM_000081.4

p.K204del1

c.610_611delTTT

1 paper

NM_000081.4

p.H200L

c.599A>T

1 paper

NM_000081.4

p.H200Y

c.598C>T

1 paper

NM_000081.4

p.D199E

c.597C>G

1 paper

NM_000081.4

p.D199E

c.597C>A

1 paper

NM_000081.4

p.Q198E

c.592C>G