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.F509L

c.1527T>A

Surrounding Variants

1 paper

NM_000081.4

p.R503_S507del5

c.1507_1520del15

1 paper

NM_000081.4

p.S507A

c.1519T>G

1 paper

NM_000081.4

p.Y506C

c.1517A>G

13 papers

NM_000081.4

p.R514*

c.1540C>T

4 papers

NM_000081.4

p.R514Q

c.1541G>A

1 paper

NM_000081.4

p.R502_R503del2

c.1504_1508del6

4 papers

NM_000081.4

p.R503*

c.1507C>T

1 paper

NM_000081.4

p.L519F

c.1555C>T

1 paper

NM_000081.4

p.L519H

c.1556T>A

1 paper

NM_000081.4

p.L519delFs

c.1556_1557delAA

1 paper

NM_000081.4

p.K499I

c.1496A>T

1 paper

NM_000081.4

p.R498R

c.1494A>G