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.G343A

c.1028G>C

Surrounding Variants

1 paper

NM_013444.4

p.N344D

c.1030A>G

1 paper

NM_013444.4

p.S342F

c.1025C>T

6 papers

NM_013444.4

p.S346C

c.1037C>G

1 paper

NM_013444.4

p.S340N

c.1019G>A

6 papers

NM_013444.4

p.S340I

c.1019G>T

1 paper

NM_013444.4

p.S337R

c.1011C>G

1 paper

NM_013444.4

p.T350A

c.1048A>G

4 papers

NM_013444.4

p.T336A

c.1006A>G

3 papers

NM_013444.4

p.G351A

c.1052G>C

1 paper

NM_013444.4

p.G351G

c.1053G>A

1 paper

NM_013444.4

p.N352T

c.1055A>C

5 papers

NM_013444.4

p.N352S

c.1055A>G