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.A46E

c.137C>A

Surrounding Variants

2 papers

NM_004562.3

p.A46V

c.137C>T

2 papers

NM_004562.3

p.A46G

c.137C>G

5 papers

NM_004562.3

p.A46S

c.136G>T

23 papers

NM_004562.3

p.A46P

c.136G>C

22 papers

NM_004562.3

p.A46T

c.136G>A

1 paper

NM_004562.3

p.G47W

c.139G>T

1 paper

NM_004562.3

p.G47R

c.139G>C

2 papers

NM_004562.3

p.G47R

c.139G>A

1 paper

NM_004562.3

p.F45L

c.135C>G

1 paper

NM_004562.3

p.F45_A46insFs

c.135_136insGC

1 paper

NM_004562.3

p.F45insFs

c.134_135ins5

1 paper

NM_004562.3

p.Q34_F45delFs

c.102_133del32