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.F253F

c.759T>C

Surrounding Variants

4 papers

NM_015622.6

p.E214D

c.642G>C

4 papers

NM_015622.6

p.E214D

c.642G>T

1 paper

NM_015622.6

p.N211S

c.632A>G

1 paper

NM_015622.6

p.R174Q

c.521G>A

1 paper

NM_015622.6

p.R139W

c.415C>T

1 paper

NM_015622.6

p.S136L

c.407C>T

1 paper

NM_015622.6

p.S136A

c.406T>G

1 paper

NM_015622.6

p.M320V

c.958A>G

1 paper

NM_015622.6

p.M104_V105Splc

c.312+10T>C

6 papers

NM_015622.6

p.V332I

c.994G>A

1 paper

NM_015622.6

p.E41A

c.122A>C

1 paper

NM_015622.6

p.E359*

c.1075G>T