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

1 paper

NM_004562.3

p.V380A

c.1139T>C

Surrounding Variants

110 papers

NM_004562.3

p.V380L

c.1138G>T

112 papers

NM_004562.3

p.V380L

c.1138G>C

5 papers

NM_004562.3

p.V380I

c.1138G>A

2 papers

NM_004562.3

p.F381V

c.1141T>G

2 papers

NM_004562.3

p.A379V

c.1136C>T

2 papers

NM_004562.3

p.A379insFs

c.1135_1136insA

1 paper

NM_004562.3

p.S378N

c.1133G>A

1 paper

NM_004562.3

p.S378G

c.1132A>G

1 paper

NM_004562.3

p.A383S

c.1147G>T

7 papers

NM_004562.3

p.A383T

c.1147G>A

1 paper

NM_004562.3

p.E382_A383delins

c.1144_1147delinsC

1 paper

NM_004562.3

p.A383V

c.1148C>T