Varaico: Literature-Extracted Genetic Variants

UBQLN2

425 papers

RefSeq Summary

This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a ...

Pfam Domains

ubiquitinaa 33–105UCSCUbiquitin family

UBQLN1aa 174–293UCSCUbiquilin-1-like domain

UBAaa 581–618UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquilin 2

HGNC Alias Symbols

Chap1; Dsk2; RIHFB2157; LIC-2; CHAP1/DSK2; PLIC-2; N4BP4; PLIC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013444.4

p.G483R

c.1447G>A

Surrounding Variants

1 paper

NM_013444.4

p.G483W

c.1447G>T

2 papers

NM_013444.4

p.V484G

c.1451T>G

1 paper

NM_013444.4

p.L485insFs

c.1453dupC

3 papers

NM_013444.4

p.G481V

c.1442G>T

1 paper

NM_013444.4

p.L485L

c.1455G>A

1 paper

NM_013444.4

p.T487A

c.1459A>G

27 papers

NM_013444.4

p.T487I

c.1460C>T

5 papers

NM_013444.4

p.T487T

c.1461C>A

1 paper

NM_013444.4

p.P478A

c.1432C>G

11 papers

NM_013444.4

p.A488T

c.1462G>A

1 paper

NM_013444.4

p.F476S

c.1427T>C

1 paper

NM_013444.4

p.G490insFs

c.1470dupC