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.A339V

c.1016C>T

Surrounding Variants

1 paper

NM_004562.3

p.A339E

c.1016C>A

10 papers

NM_004562.3

p.A339S

c.1015G>T

1 paper

NM_004562.3

p.G338_A339insFs

c.1014_1015ins4

7 papers

NM_004562.3

p.A339T

c.1015G>A

2 papers

NM_004562.3

p.A339A

c.1017G>A

1 paper

NM_004562.3

p.C337_G338del2

c.1009_1013del6

2 papers

NM_004562.3

p.G340W

c.1018G>T

5 papers

NM_004562.3

p.G340R

c.1018G>A

1 paper

NM_004562.3

p.G338G

c.1014A>G

1 paper

NM_004562.3

p.G338V

c.1013G>T

1 paper

NM_013988.3

p.G189R

c.565G>C

1 paper

NM_013988.3

p.G189R

c.565G>A