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.R1026K

c.3077G>A

Surrounding Variants

1 paper

NM_000081.4

p.N1019_N1025del7

c.3055_3074del21

1 paper

NM_000081.4

p.R1026*

c.3076A>T

3 papers

NM_000081.4

p.N1025delFs

c.3074delT

3 papers

NM_000081.4

p.N1025delFs

c.3073_3074delTT

1 paper

NM_000081.4

p.I1027delFs

c.3079_3080delAT

2 papers

NM_000081.4

p.N1025fs

c.3073_3074fs

1 paper

NM_000081.4

p.S1028C

c.3083C>G

2 papers

NM_000081.4

p.L1024V

c.3070T>G

8 papers

NM_000081.4

p.Q1029*

c.3085C>T

1 paper

NM_000081.4

p.Q1022_D1023insT

c.3064_3068ins3

1 paper

NM_000081.4

p.K1031M

c.3092A>T

1 paper

NM_000081.4

p.R1032G

c.3094A>G