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.R15P

c.44G>C

Surrounding Variants

2 papers

NM_013444.4

p.R15L

c.44G>T

2 papers

NM_013444.4

p.G16S

c.46G>A

1 paper

NM_013444.4

p.G16R

c.46G>C

1 paper

NM_013444.4

p.P13R

c.38C>G

1 paper

NM_013444.4

p.P17R

c.50C>G

2 papers

NM_013444.4

p.P17P

c.51T>A

1 paper

NM_013444.4

p.A18V

c.53C>T

1 paper

NM_013444.4

p.P11L

c.32C>T

1 paper

NM_013444.4

p.A20T

c.58G>A

1 paper

NM_013444.4

p.P10R

c.29C>G

1 paper

NM_013444.4

p.P10L

c.29C>T

1 paper

NM_013444.4

p.P10_S14delFs

c.30_40del11