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

62 papers

NM_004562.3

p.C441R

c.1321T>C

NM_013987.3

p.C413R

c.1237T>C

Surrounding Variants

1 paper

NM_004562.3

p.C441Y

c.1322G>A

1 paper

NM_004562.3

p.C441W

c.1323C>G

1 paper

NM_004562.3

p.Q440R

c.1319A>G

1 paper

NM_004562.3

p.R442G

c.1324A>G

1 paper

NM_004562.3

p.R442S

c.1326G>T

1 paper

NM_004562.3

p.Q438R

c.1313A>G

2 papers

NM_004562.3

p.E444*

c.1330G>T

12 papers

NM_004562.3

p.E444Q

c.1330G>C

1 paper

NM_004562.3

p.E444K

c.1330G>A

1 paper

NM_004562.3

p.P437P

c.1311G>C

2 papers

NM_004562.3

p.P437P

c.1311G>A

1 paper

NM_004562.3

p.P437delFs

c.1310delG