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.C457S

c.1369T>A

Surrounding Variants

3 papers

NM_004562.3

p.C457S

c.1370G>C

2 papers

NM_004562.3

p.V456I

c.1366G>A

13 papers

NM_004562.3

p.M458L

c.1372A>T

14 papers

NM_004562.3

p.M458L

c.1372A>C

1 paper

NM_004562.3

p.R455C

c.1363C>T

1 paper

NM_004562.3

p.G459A

c.1376G>C

1 paper

NM_004562.3

p.G459E

c.1376G>A

2 papers

NM_004562.3

p.N454N

c.1362C>T

1 paper

NM_004562.3

p.G459_D460insFs

c.1377_1378insA

1 paper

NM_004562.3

p.D460insFs

c.1378_1379insA

1 paper

NM_004562.3

p.N454D

c.1360A>G

34 papers

NM_004562.3

p.W453*

c.1359G>A