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.P440T

c.1318C>A

Surrounding Variants

1 paper

NM_013444.4

p.P440Q

c.1319C>A

7 papers

NM_013444.4

p.P440L

c.1319C>T

3 papers

NM_013444.4

p.N439I

c.1316A>T

1 paper

NM_013444.4

p.A445D

c.1334C>A

10 papers

NM_013444.4

p.M446R

c.1337T>G

1 paper

NM_013444.4

p.S447A

c.1339T>G

2 papers

NM_013444.4

p.P431L

c.1292C>T

1 paper

NM_013444.4

p.Q425H

c.1275G>C

1 paper

NM_013444.4

p.Q425H

c.1275G>T

8 papers

NM_013444.4

p.Q425R

c.1274A>G

1 paper

NM_013444.4

p.Q457H

c.1371G>C

1 paper

NM_013444.4

p.Q457H

c.1371G>T