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.H760_V761ins7

c.2278_2282ins21

Surrounding Variants

1 paper

NM_000081.4

p.V761L

c.2281G>C

2 papers

NM_000081.4

p.S763C

c.2287A>T

1 paper

NM_000081.4

p.H747_T755del9

c.2239_2264del27

1 paper

NM_000081.4

p.H765Y

c.2293C>T

1 paper

NM_000081.4

p.S753N

c.2258G>A

1 paper

NM_000081.4

p.L752P

c.2255T>C

1 paper

NM_000081.4

p.L752Q

c.2255T>A

1 paper

NM_000081.4

p.E744_H751del8

c.2230_2252del24

1 paper

NM_000081.4

p.C768W

c.2304C>G

1 paper

NM_000081.4

p.H748_C749del2

c.2242_2246del6

1 paper

NM_000081.4

p.Q750R

c.2249A>G

4 papers

NM_000081.4

p.Q771*

c.2311C>T