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

2 papers

NM_013444.4

p.S196L

c.587C>T

Surrounding Variants

1 paper

NM_013444.4

p.P198S

c.592C>T

1 paper

NM_013444.4

p.D199A

c.596A>C

1 paper

NM_013444.4

p.M201fs

c.601_602fs

1 paper

NM_013444.4

p.V191G

c.572T>G

1 paper

NM_013444.4

p.M201insFs

c.602_603insCA

8 papers

NM_013444.4

p.P189T

c.565C>A

1 paper

NM_013444.4

p.M186_E187insFs

c.558_559insC

1 paper

NM_013444.4

p.Q184R

c.551A>G

1 paper

NM_013444.4

p.Q184*

c.550C>T

4 papers

NM_013444.4

p.S222G

c.664A>G

1 paper

NM_013444.4

p.Q170Q

c.510G>A

1 paper

NM_013444.4

p.S222_H223ins1

c.666_667insGGC