Varaico: Literature-Extracted Genetic Variants

UBOX5

24 papers

RefSeq Summary

This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript ...

Pfam Domains

DUF5918aa 4–217UCSCFamily of unknown function (DUF5918)

U-boxaa 259–337UCSCU-box domain

zf-RING_5aa 482–529UCSCzinc-RING finger domain

Gene Aliases

HGNC Name

U-box domain containing 5

HGNC Alias Symbols

UIP5; KIAA0860; Ubce7ip5; RNF37

Papers

RefSeq ID

Protein change

DNA change

1–12 of 88 variants

2 papers

NM_014948.4

p.P306A

c.916C>G

1 paper

NM_014948.4

p.I14N

c.41T>A

1 paper

NM_014948.4

p.K18R

c.53A>G

1 paper

NM_014948.4

p.D33N

c.97G>A

1 paper

NM_014948.4

p.D33E

c.99T>G

1 paper

NM_014948.4

p.D33E

c.99T>A

1 paper

NM_014948.4

p.F46L

c.136T>C

1 paper

NM_014948.4

p.F46L

c.138C>G

1 paper

NM_014948.4

p.F46L

c.138C>A

1 paper

NM_014948.4

p.V53M

c.157G>A

1 paper

NM_014948.4

p.Q76E

c.226C>G

1 paper

NM_014948.4

p.E82Q

c.244G>C