Varaico: Literature-Extracted Genetic Variants

PRKN

4,125 papers

RefSeq Summary

The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasoma...

Pfam Domains

ubiquitinaa 3–73UCSCUbiquitin family

zf-RING_12aa 145–217UCSCRING/Ubox like zinc-binding domain

zf-RING_14aa 228–318UCSCRING/Ubox like zinc-binding domain

IBR_2aa 411–459UCSCIBR domain

Gene Aliases

HGNC Name

parkin RBR E3 ubiquitin protein ligase

HGNC Previous Symbol

PARK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_004562.3

p.S101_L102del2

c.301_305del6

Surrounding Variants

1 paper

NM_004562.3

p.T103I

c.308C>T

1 paper

NM_004562.3

p.T103S

c.308C>G

1 paper

NM_004562.3

p.T103N

c.308C>A

7 papers

NM_004562.3

p.T103T

c.309T>G

1 paper

NM_004562.3

p.T103T

c.309T>C

1 paper

NM_004562.3

p.T103T

c.309T>A

1 paper

NM_004562.3

p.T103A

c.307A>G

1 paper

NM_004562.3

p.T103P

c.307A>C

2 papers

NM_004562.3

p.L102F

c.306G>T

2 papers

NM_004562.3

p.L102F

c.306G>C

1 paper

NM_004562.3

p.L102L

c.306G>A

11 papers

NM_004562.3

p.R104W

c.310C>T