Varaico: Literature-Extracted Genetic Variants

Gene:UBOX5
Variant:p.A326T

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.A326T
c.976G>A
Surrounding Variants
1 paper
NM_014948.4
p.A326V
c.977C>T
1 paper
NM_014948.4
p.Q317R
c.950A>G
1 paper
NM_014948.4
p.A311D
c.932C>A
1 paper
NM_014948.4
p.A346S
c.1036G>T
2 papers
NM_014948.4
p.P306A
c.916C>G
1 paper
NM_014948.4
p.R301Q
c.902G>A
1 paper
NM_014948.4
p.A351V
c.1052C>T
1 paper
NM_014948.4
p.K291R
c.872A>G
1 paper
NM_014948.4
p.L277M
c.829C>A
1 paper
NM_014948.4
p.F377C
c.1130T>G
1 paper
NM_014948.4
p.C383S
c.1147T>A
1 paper
NM_014948.4
p.C383S
c.1148G>C
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