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.P1603L

c.4808C>T

Surrounding Variants

1 paper

NM_000081.4

p.Q1604R

c.4811A>G

1 paper

NM_000081.4

p.Q1601*

c.4801C>T

1 paper

NM_000081.4

p.L1597L

c.4791C>T

1 paper

NM_000081.4

p.L1595_L1597delFs

c.4784_4790del7

1 paper

NM_000081.4

p.L1595F

c.4785A>T

1 paper

NM_000081.4

p.H1594L

c.4781A>T

1 paper

NM_000081.4

p.I1615V

c.4843A>G

1 paper

NM_000081.4

p.E1584_N1585del2

c.4750_4754del6

4 papers

NM_000081.4

p.R1621Splc

c.4862+1G>A

1 paper

NM_000081.4

p.A1578T

c.4732G>A

1 paper

NM_000081.4

p.V1564M

c.4690G>A

12 papers

NM_000081.4

p.R1563H

c.4688G>A