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.A361A

c.1083C>T

Surrounding Variants

1 paper

NM_013444.4

p.A361T

c.1081G>A

1 paper

NM_013444.4

p.N358_Y359del1

c.1074_1076delTTA

1 paper

NM_013444.4

p.S365N

c.1094G>A

4 papers

NM_013444.4

p.G368S

c.1102G>A

1 paper

NM_013444.4

p.N352T

c.1055A>C

5 papers

NM_013444.4

p.N352S

c.1055A>G

1 paper

NM_013444.4

p.S371N

c.1112G>A

1 paper

NM_013444.4

p.G351G

c.1053G>A

3 papers

NM_013444.4

p.G351A

c.1052G>C

1 paper

NM_013444.4

p.T350A

c.1048A>G

4 papers

NM_013444.4

p.I376V

c.1126A>G

6 papers

NM_013444.4

p.S346C

c.1037C>G