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.H439_A448delFs

c.1317_1344del28

Surrounding Variants

1 paper

NM_000081.4

p.Q434_A448del15

c.1300_1343del45

1 paper

NM_000081.4

p.T447I

c.1340C>T

1 paper

NM_000081.4

p.E446A

c.1337A>C

1 paper

NM_000081.4

p.F445delFs

c.1335delA

1 paper

NM_000081.4

p.F445_E446insA

c.1333_1337ins3

1 paper

NM_000081.4

p.E453K

c.1357G>A

1 paper

NM_000081.4

p.E453V

c.1358A>T

1 paper

NM_000081.4

p.E453G

c.1358A>G

1 paper

NM_000081.4

p.L444delFs

c.1331delA

1 paper

NM_000081.4

p.W454R

c.1360T>C

1 paper

NM_000081.4

p.W454R

c.1360T>A

1 paper

NM_000081.4

p.H440_N443del4

c.1318_1328del12