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

347 papers

NM_004562.3

p.R275W

c.823C>T

NM_013988.3

p.R126W

c.376C>T

Surrounding Variants

1 paper

NM_004562.3

p.R275R

c.823C>A

1 paper

NM_004562.3

p.D274E

c.822T>G

1 paper

NM_004562.3

p.D274E

c.822T>A

1 paper

NM_004562.3

p.D274delFs

c.821delT

1 paper

NM_004562.3

p.R275L

c.824G>T

3 papers

NM_004562.3

p.R275P

c.824G>C

20 papers

NM_004562.3

p.R275Q

c.824G>A

1 paper

NM_004562.3

p.D274A

c.821A>C

2 papers

NM_004562.3

p.Q276fs

c.826_827fs

1 paper

NM_004562.3

p.Q276*

c.826C>T

1 paper

NM_004562.3

p.V269_R275del7

c.805_824del21

6 papers

NM_004562.3

p.N273K

c.819T>G