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.P518P

c.1554C>G

Surrounding Variants

1 paper

NM_013444.4

p.P521S

c.1561C>T

1 paper

NM_013444.4

p.A523Fs

c.1567delinsGCFs

1 paper

NM_013444.4

p.A523fs

c.1567_1568fs

1 paper

NM_013444.4

p.A523delFs

c.1568delC

1 paper

NM_013444.4

p.P524H

c.1571C>A

1 paper

NM_013444.4

p.P525fs

c.1573_1574fs

47 papers

NM_013444.4

p.P525S

c.1573C>T

2 papers

NM_013444.4

p.P525fs

c.1573_1574fs

1 paper

NM_013444.4

p.P525R

c.1574C>G

17 papers

NM_013444.4

p.P525L

c.1574C>T

1 paper

NM_013444.4

p.P509H

c.1526C>A

42 papers

NM_013444.4

p.P509S

c.1525C>T