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

Selected Variant

1 paper

NM_014948.4

p.F377C

c.1130T>G

Surrounding Variants

1 paper

NM_014948.4

p.C383S

c.1147T>A

1 paper

NM_014948.4

p.C383S

c.1148G>C

1 paper

NM_014948.4

p.P393S

c.1177C>T

1 paper

NM_014948.4

p.K402N

c.1206A>T

1 paper

NM_014948.4

p.K402N

c.1206A>C

1 paper

NM_014948.4

p.A351V

c.1052C>T

1 paper

NM_014948.4

p.A346S

c.1036G>T

1 paper

NM_014948.4

p.S417P

c.1249T>C

1 paper

NM_014948.4

p.C416del1

c.1246_1247delGCA

1 paper

NM_014948.4

p.A326V

c.977C>T

1 paper

NM_014948.4

p.A326T

c.976G>A

1 paper

NM_014948.4

p.Q317R

c.950A>G