Varaico: Literature-Extracted Genetic Variants

CCZ1

7p22.1 (UCSC)OMIM GTEx

29 papers

Pfam Domains

Intu_longin_1aa 24–150UCSCFirst Longin domain of INTU, CCZ1 and HPS4

Intu_longin_2aa 220–347UCSCIntu longin-like domain 2

Intu_longin_3aa 372–470UCSCIntu longin-like domain 3

Gene Aliases

HGNC Name

CCZ1 vacuolar protein trafficking and biogenesis associated

HGNC Previous Symbol

C7orf28A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015622.6

p.K469K

c.1407A>G

Surrounding Variants

1 paper

NM_015622.6

p.Q455fs

c.1363_1364fs

1 paper

NM_015622.6

p.Q455delFs

c.1364delA

1 paper

NM_015622.6

p.V451I

c.1351G>A

1 paper

NM_015622.6

p.P407P

c.1221G>A

1 paper

NM_015622.6

p.E359*

c.1075G>T

6 papers

NM_015622.6

p.V332I

c.994G>A

1 paper

NM_015622.6

p.M320V

c.958A>G