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.D115D

c.345C>T

Surrounding Variants

3 papers

NM_004562.3

p.D115E

c.345C>G

4 papers

NM_004562.3

p.D115E

c.345C>A

1 paper

NM_004562.3

p.S116fs

c.346_347fs

2 papers

NM_004562.3

p.D115V

c.344A>T

1 paper

NM_004562.3

p.D115G

c.344A>G

2 papers

NM_004562.3

p.D115A

c.344A>C

2 papers

NM_004562.3

p.D115N

c.343G>A

1 paper

NM_004562.3

p.G114_S116delFs

c.342_346del5

2 papers

NM_004562.3

p.G114V

c.341G>T

1 paper

NM_004562.3

p.V117L

c.349G>C

1 paper

NM_004562.3

p.G114A

c.341G>C

2 papers

NM_004562.3

p.V117M

c.349G>A