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.Q384*

c.1150C>T

Surrounding Variants

6 papers

NM_013444.4

p.I383V

c.1147A>G

1 paper

NM_013444.4

p.L382insFs

c.1145_1146insA

1 paper

NM_013444.4

p.L382_M392del0

c.1146_1175del30

1 paper

NM_013444.4

p.M386I

c.1158G>A

1 paper

NM_013444.4

p.M386I

c.1158G>C

1 paper

NM_013444.4

p.M386I

c.1158G>T

1 paper

NM_013444.4

p.P380S

c.1138C>T

1 paper

NM_013444.4

p.P390L

c.1169C>T

1 paper

NM_013444.4

p.Y391C

c.1172A>G

1 paper

NM_013444.4

p.M392L

c.1174A>C

7 papers

NM_013444.4

p.M392V

c.1174A>G

4 papers

NM_013444.4

p.I376V

c.1126A>G