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

83 papers

NM_004562.3

p.C431S

c.1292G>C

Surrounding Variants

98 papers

NM_004562.3

p.C431F

c.1292G>T

2 papers

NM_004562.3

p.C431Y

c.1292G>A

2 papers

NM_004562.3

p.C431R

c.1291T>C

83 papers

NM_004562.3

p.C431S

c.1291T>A

6 papers

NM_004562.3

p.M432V

c.1294A>G

129 papers

NM_004562.3

p.G430D

c.1289G>A

2 papers

NM_004562.3

p.G430C

c.1288G>T

1 paper

NM_004562.3

p.M432I

c.1296G>T

1 paper

NM_004562.3

p.M432I

c.1296G>C

5 papers

NM_004562.3

p.G430S

c.1288G>A

1 paper

NM_004562.3

p.M432I

c.1296G>A

3 papers

NM_004562.3

p.H433N

c.1297C>A