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.T387N

c.1160C>A

Surrounding Variants

1 paper

NM_004562.3

p.T388S

c.1162A>T

1 paper

NM_004562.3

p.T388A

c.1162A>G

1 paper

NM_004562.3

p.T388S

c.1163C>G

2 papers

NM_004562.3

p.T387_T388delFs

c.1161_1162delTA

1 paper

NM_004562.3

p.T387_T388del2

c.1159_1163del6

1 paper

NM_004562.3

p.G385E

c.1154G>A

4 papers

NM_004562.3

p.Q389_A390Splc

c.1167+1G>T

NM_013988.3

p.Q240_A241Splc

c.720+1G>T

3 papers

NM_004562.3

p.S384S

c.1152A>C

1 paper

NM_004562.3

p.S384delFs

c.1150delA

2 papers

NM_004562.3

p.S384A

c.1150T>G

1 paper

NM_004562.3

p.A383V

c.1148C>T

1 paper

NM_004562.3

p.A383S

c.1147G>T