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.F1992_K1994del3

c.5974_5981del9

Surrounding Variants

10 papers

NM_000081.4

p.V1999D

c.5996T>A

1 paper

NM_000081.4

p.L2000L

c.6000T>C

2 papers

NM_000081.4

p.R1986Q

c.5957G>A

1 paper

NM_000081.4

p.R1986*

c.5956C>T

4 papers

NM_000081.4

p.T1982I

c.5945C>T

2 papers

NM_000081.4

p.I2011V

c.6031A>G

1 paper

NM_000081.4

p.Y1976C

c.5927A>G

1 paper

NM_000081.4

p.L2016_L2017insTT

c.6046_6050ins6

1 paper

NM_000081.4

p.H2020Y

c.6058C>T

1 paper

NM_000081.4

p.Y2026fs

c.6076_6077fs

9 papers

NM_000081.4

p.Y2026*

c.6078C>G

2 papers

NM_000081.4

p.Y2026fs

c.6076_6077fs