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.H461Y

c.1381C>T

Surrounding Variants

1 paper

NM_004562.3

p.D460fs

c.1378_1379fs

1 paper

NM_004562.3

p.H461R

c.1382A>G

1 paper

NM_004562.3

p.H461insFs

c.1381dupC

1 paper

NM_004562.3

p.D460A

c.1379A>C

1 paper

NM_004562.3

p.D460insFs

c.1378_1379insA

2 papers

NM_004562.3

p.W462insFs

c.1385_1386insA

1 paper

NM_004562.3

p.G459_D460insFs

c.1377_1378insA

2 papers

NM_004562.3

p.W462*

c.1385G>A

1 paper

NM_004562.3

p.G459A

c.1376G>C

2 papers

NM_004562.3

p.W462*

c.1386G>A

1 paper

NM_004562.3

p.G459E

c.1376G>A

5 papers

NM_004562.3

p.F463Y

c.1388T>A