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

3 papers

NM_004562.3

p.D464A

c.1391A>C

Surrounding Variants

10 papers

NM_004562.3

p.D464N

c.1390G>A

1 paper

NM_004562.3

p.D464E

c.1392C>G

2 papers

NM_004562.3

p.D464E

c.1392C>A

1 paper

NM_004562.3

p.V465L

c.1393G>T

1 paper

NM_004562.3

p.V465M

c.1393G>A

1 paper

NM_004562.3

p.V465A

c.1394T>C

5 papers

NM_004562.3

p.F463Y

c.1388T>A

1 paper

NM_004562.3

p.V465E

c.1394T>A

1 paper

NM_004562.3

p.*466Q

c.1396T>C

2 papers

NM_004562.3

p.W462*

c.1386G>A

2 papers

NM_004562.3

p.W462insFs

c.1385_1386insA

2 papers

NM_004562.3

p.W462*

c.1385G>A