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.S260G

c.778A>G

Surrounding Variants

1 paper

NM_013444.4

p.I261I

c.783C>A

1 paper

NM_013444.4

p.P262_G263insG

c.784_788ins3

1 paper

NM_013444.4

p.D252N

c.754G>A

1 paper

NM_013444.4

p.R270H

c.809G>A

1 paper

NM_013444.4

p.M271R

c.812T>G

1 paper

NM_013444.4

p.M243V

c.727A>G

2 papers

NM_013444.4

p.A242T

c.724G>A

1 paper

NM_013444.4

p.A238S

c.712G>T

11 papers

NM_013444.4

p.A282V

c.845C>T

6 papers

NM_013444.4

p.A283T

c.847G>A

1 paper

NM_013444.4

p.E236K

c.706G>A

1 paper

NM_013444.4

p.Q286H

c.858G>T