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.L272V

c.814C>G

Surrounding Variants

2 papers

NM_004562.3

p.L272F

c.814C>T

14 papers

NM_004562.3

p.L272I

c.814C>A

1 paper

NM_004562.3

p.L272R

c.815T>G

8 papers

NM_004562.3

p.R271S

c.813A>T

7 papers

NM_004562.3

p.R271S

c.813A>C

1 paper

NM_004562.3

p.R271K

c.812G>A

3 papers

NM_004562.3

p.L272L

c.816C>T

1 paper

NM_004562.3

p.L272L

c.816C>A

1 paper

NM_004562.3

p.N273D

c.817A>G

13 papers

NM_004562.3

p.N273S

c.818A>G

6 papers

NM_004562.3

p.N273K

c.819T>G

2 papers

NM_004562.3

p.N273N

c.819T>C