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.S67S

c.201C>T

Surrounding Variants

1 paper

NM_013444.4

p.D70N

c.208G>A

1 paper

NM_013444.4

p.Q71*

c.211C>T

1 paper

NM_013444.4

p.R64P

c.191G>C

1 paper

NM_013444.4

p.Q71R

c.212A>G

1 paper

NM_013444.4

p.R64G

c.190C>G

3 papers

NM_013444.4

p.K63R

c.188A>G

2 papers

NM_013444.4

p.L72L

c.214C>T

1 paper

NM_013444.4

p.S62L

c.185C>T

1 paper

NM_013444.4

p.V73M

c.217G>A

1 paper

NM_013444.4

p.I75T

c.224T>C

1 paper

NM_013444.4

p.E59insFs

c.175_176insGG

1 paper

NM_013444.4

p.A77S

c.229G>T