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.R309S

c.925C>A

Surrounding Variants

1 paper

NM_013444.4

p.R313H

c.938G>A

1 paper

NM_013444.4

p.G304S

c.910G>A

1 paper

NM_013444.4

p.D314N

c.940G>A

4 papers

NM_013444.4

p.D314E

c.942T>A

4 papers

NM_013444.4

p.D314E

c.942T>G

1 paper

NM_013444.4

p.G302E

c.905G>A

1 paper

NM_013444.4

p.S301F

c.902C>T

1 paper

NM_013444.4

p.S301P

c.901T>C

3 papers

NM_013444.4

p.A321G

c.962C>G

3 papers

NM_013444.4

p.A321V

c.962C>T

1 paper

NM_013444.4

p.S294A

c.880T>G

1 paper

NM_013444.4

p.A325insFs

c.973dupG