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.V1078fs

c.3232_3233fs

Surrounding Variants

1 paper

NM_000081.4

p.V1078delFs

c.3232delC

1 paper

NM_000081.4

p.A1080_T1081insT

c.3238_3242ins3

1 paper

NM_000081.4

p.E1082_A1084del3

c.3244_3251del9

1 paper

NM_000081.4

p.T1081_A1084del4

c.3241_3251del12

2 papers

NM_000081.4

p.Q1068*

c.3202C>T

1 paper

NM_000081.4

p.E1066_L1067delFs

c.3198_3199delAC

2 papers

NM_000081.4

p.L1065delFs

c.3194delA

2 papers

NM_000081.4

p.L1065*

c.3194T>G

2 papers

NM_000081.4

p.L1065*

c.3194T>A

1 paper

NM_000081.4

p.F1091_T1092insC

c.3271_3275ins3

1 paper

NM_000081.4

p.L1065V

c.3193T>G

1 paper

NM_000081.4

p.T1092I

c.3275C>T