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

10 papers

NM_000081.4

p.K2790Q

c.8368A>C

Surrounding Variants

1 paper

NM_000081.4

p.G2788E

c.8363G>A

2 papers

NM_000081.4

p.H2787fs

c.8359_8360fs

3 papers

NM_000081.4

p.Y2794fs

c.8380_8381fs

1 paper

NM_000081.4

p.Y2794F

c.8381A>T

3 papers

NM_000081.4

p.Y2794insFs

c.8380dupT

2 papers

NM_000081.4

p.H2787_E2797delFs

c.8359_8389del31

1 paper

NM_000081.4

p.Q2803*

c.8407C>T

1 paper

NM_000081.4

p.Q2803del1

c.8407_8408delTTG

1 paper

NM_000081.4

p.G2804D

c.8411G>A

1 paper

NM_000081.4

p.E2808D

c.8424A>T

1 paper

NM_000081.4

p.E2808D

c.8424A>C

1 paper

NM_000081.4

p.E2809*

c.8425G>T