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.V98D

c.293T>A

Surrounding Variants

1 paper

NM_013444.4

p.L96P

c.287T>C

1 paper

NM_013444.4

p.L96M

c.286C>A

1 paper

NM_013444.4

p.G95R

c.283G>A

1 paper

NM_013444.4

p.G95R

c.283G>C

1 paper

NM_013444.4

p.I102V

c.304A>G

1 paper

NM_013444.4

p.D94N

c.280G>A

1 paper

NM_013444.4

p.N106S

c.317A>G

1 paper

NM_013444.4

p.H90N

c.268C>A

2 papers

NM_013444.4

p.R107*

c.319C>T

3 papers

NM_013444.4

p.R107R

c.321A>G

1 paper

NM_013444.4

p.P108S

c.322C>T

1 paper

NM_013444.4

p.I88insFs

c.262_263insG