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.F364F

c.1092C>T

Surrounding Variants

1 paper

NM_004562.3

p.F364L

c.1092C>G

1 paper

NM_004562.3

p.F364L

c.1092C>A

4 papers

NM_004562.3

p.C365S

c.1093T>A

1 paper

NM_004562.3

p.A363_F364del2

c.1087_1091del6

1 paper

NM_004562.3

p.F364V

c.1090T>G

1 paper

NM_004562.3

p.F364L

c.1090T>C

1 paper

NM_004562.3

p.C365F

c.1094G>T

4 papers

NM_004562.3

p.C365S

c.1094G>C

1 paper

NM_004562.3

p.C365C

c.1095C>T

33 papers

NM_004562.3

p.R366W

c.1096C>T

8 papers

NM_004562.3

p.R366Q

c.1097G>A

1 paper

NM_004562.3

p.A363T

c.1087G>A