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.S133A

c.397T>G

Surrounding Variants

2 papers

NM_013444.4

p.T134I

c.401C>T

1 paper

NM_013444.4

p.P135T

c.403C>A

1 paper

NM_013444.4

p.P135insFs

c.403_404ins8

1 paper

NM_013444.4

p.T138A

c.412A>G

14 papers

NM_013444.4

p.T128S

c.382A>T

1 paper

NM_013444.4

p.N139H

c.415A>C

1 paper

NM_013444.4

p.S140R

c.418A>C

1 paper

NM_013444.4

p.S140C

c.418A>T

1 paper

NM_013444.4

p.S140R

c.420C>A

1 paper

NM_013444.4

p.S140R

c.420C>G

1 paper

NM_013444.4

p.N141I

c.422A>T

1 paper

NM_013444.4

p.T124A

c.370A>G