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.A405A

c.1215A>G

Surrounding Variants

1 paper

NM_004562.3

p.A406S

c.1216G>T

1 paper

NM_004562.3

p.A406T

c.1216G>A

1 paper

NM_004562.3

p.A406fs

c.1216_1217fs

1 paper

NM_004562.3

p.A405P

c.1213G>C

1 paper

NM_004562.3

p.S407A

c.1219T>G

1 paper

NM_004562.3

p.W403delFs

c.1209delC

1 paper

NM_004562.3

p.S407F

c.1220C>T

1 paper

NM_004562.3

p.W403C

c.1209G>T

1 paper

NM_004562.3

p.W403S

c.1208G>C

1 paper

NM_004562.3

p.W403*

c.1208G>A

1 paper

NM_004562.3

p.S407_K408insFs

c.1221_1222insC

6 papers

NM_004562.3

p.K408R

c.1223A>G