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.V350L

c.1048G>C

Surrounding Variants

1 paper

NM_004562.3

p.V350F

c.1048G>T

1 paper

NM_004562.3

p.K349delFs

c.1046_1047delTT

1 paper

NM_004562.3

p.K349del1

c.1045_1046delTTT

2 papers

NM_004562.3

p.K349fs

c.1045_1046fs

4 papers

NM_004562.3

p.K349R

c.1046A>G

18 papers

NM_004562.3

p.T351P

c.1051A>C

1 paper

NM_004562.3

p.V350delFs

c.1049_1050delGA

2 papers

NM_004562.3

p.R348fs

c.1042_1043fs

2 papers

NM_004562.3

p.Q347_R348delFs

c.1041_1042delTC

8 papers

NM_004562.3

p.C352G

c.1054T>G

3 papers

NM_004562.3

p.C352R

c.1054T>C

1 paper

NM_004562.3

p.C352S

c.1054T>A