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.F46Y

c.137T>A

Surrounding Variants

1 paper

NM_013444.4

p.F46L

c.138C>A

1 paper

NM_013444.4

p.V48M

c.142G>A

2 papers

NM_013444.4

p.V48L

c.142G>C

2 papers

NM_013444.4

p.V48L

c.142G>T

1 paper

NM_013444.4

p.E44G

c.131A>G

1 paper

NM_013444.4

p.V48V

c.144G>A

1 paper

NM_013444.4

p.E44fs

c.130_131fs

1 paper

NM_013444.4

p.P49S

c.145C>T

2 papers

NM_013444.4

p.K43R

c.128A>G

1 paper

NM_013444.4

p.E44delFs

c.131_132delAG

2 papers

NM_013444.4

p.P49H

c.146C>A

2 papers

NM_013444.4

p.E50K

c.148G>A