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.K1044*

c.3130A>T

Surrounding Variants

1 paper

NM_000081.4

p.K1044_S1045insA

c.3130_3134ins3

2 papers

NM_000081.4

p.I1043M

c.3129A>G

2 papers

NM_000081.4

p.I1043L

c.3127A>T

2 papers

NM_000081.4

p.I1043L

c.3127A>C

1 paper

NM_000081.4

p.D1037E

c.3111T>G

1 paper

NM_000081.4

p.D1037E

c.3111T>A

1 paper

NM_000081.4

p.E1051K

c.3151G>A

1 paper

NM_000081.4

p.D1037N

c.3109G>A

1 paper

NM_000081.4

p.E1051V

c.3152A>T

1 paper

NM_000081.4

p.E1036D

c.3108A>T

1 paper

NM_000081.4

p.E1036D

c.3108A>C

4 papers

NM_000081.4

p.E1036A

c.3107A>C