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.R1032G

c.3094A>G

Surrounding Variants

1 paper

NM_000081.4

p.K1031M

c.3092A>T

1 paper

NM_000081.4

p.T1033N

c.3098C>A

8 papers

NM_000081.4

p.Q1029*

c.3085C>T

1 paper

NM_000081.4

p.S1028C

c.3083C>G

1 paper

NM_000081.4

p.I1027delFs

c.3079_3080delAT

4 papers

NM_000081.4

p.E1036A

c.3107A>C

1 paper

NM_000081.4

p.E1036D

c.3108A>T

1 paper

NM_000081.4

p.E1036D

c.3108A>C

1 paper

NM_000081.4

p.D1037N

c.3109G>A

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.R1026K

c.3077G>A