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.I501T

c.1502T>C

Surrounding Variants

1 paper

NM_013444.4

p.G502_V505del0

c.1505_1513del9

1 paper

NM_013444.4

p.G502D

c.1505G>A

14 papers

NM_013444.4

p.P500S

c.1498C>T

1 paper

NM_013444.4

p.P503S

c.1507C>T

1 paper

NM_013444.4

p.P503R

c.1508C>G

1 paper

NM_013444.4

p.G499D

c.1496G>A

1 paper

NM_013444.4

p.G499S

c.1495G>A

106 papers

NM_013444.4

p.P497H

c.1490C>A

1 paper

NM_013444.4

p.P497R

c.1490C>G

19 papers

NM_013444.4

p.P497L

c.1490C>T

67 papers

NM_013444.4

p.P497S

c.1489C>T

79 papers

NM_013444.4

p.P506T

c.1516C>A