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.R116R

c.346A>C

Surrounding Variants

2 papers

NM_000081.4

p.R116*

c.346A>T

1 paper

NM_000081.4

p.R116T

c.347G>C

2 papers

NM_000081.4

p.Q115E

c.343C>G

1 paper

NM_000081.4

p.S114del1

c.340_342delTGA

1 paper

NM_000081.4

p.S117C

c.350C>G

1 paper

NM_000081.4

p.S117Y

c.350C>A

2 papers

NM_000081.4

p.S114S

c.342A>T

1 paper

NM_000081.4

p.S114*

c.341C>G

1 paper

NM_000081.4

p.S114*

c.341C>A

2 papers

NM_000081.4

p.S114A

c.340T>G

3 papers

NM_000081.4

p.T118_Q119insG

c.352_356ins3

1 paper

NM_000081.4

p.S113Fs

c.338_339delinsAGATCTTTGAGTGFs