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.K362E

c.1084A>G

Surrounding Variants

1 paper

NM_000081.4

p.L357_L361del5

c.1069_1082del15

1 paper

NM_000081.4

p.K362R

c.1085A>G

1 paper

NM_000081.4

p.L361S

c.1082T>C

1 paper

NM_000081.4

p.L361_K362del2

c.1081_1085del6

2 papers

NM_000081.4

p.R364*

c.1090A>T

2 papers

NM_000081.4

p.R364S

c.1092A>T

1 paper

NM_000081.4

p.R364S

c.1092A>C

1 paper

NM_000081.4

p.C366S

c.1097G>C

1 paper

NM_000081.4

p.L367delFs

c.1099delG

1 paper

NM_000081.4

p.L367delFs

c.1100delA

2 papers

NM_000081.4

p.L356V

c.1066T>G

1 paper

NM_000081.4

p.E368*

c.1102G>T