Varaico: Literature-Extracted Genetic Variants

Gene:UBXN4

UBXN4

24 papers

RefSeq Summary

UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 200...

Pfam Domains

UBX7_Naa 2–110UCSCUBX7 N-terminal domain
UBXaa 314–395UCSCUBX domain

Gene Aliases

HGNC Name

UBX domain protein 4

HGNC Previous Symbols

UBXDC1; UBXD2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_014607.4
p.E101E
c.303A>G
1 paper
NM_014607.4
p.Q32H
c.96G>C
1 paper
NM_014607.4
p.Q32H
c.96G>T
1 paper
NM_014607.4
p.S62R
c.186T>A
1 paper
NM_014607.4
p.A64T
c.190G>A
1 paper
NM_014607.4
p.L66L
c.198A>C
1 paper
NM_014607.4
p.N146S
c.437A>G
1 paper
NM_014607.4
p.S180F
c.539C>T
1 paper
NM_014607.4
p.Q189H
c.567G>C
1 paper
NM_014607.4
p.Q189H
c.567G>T
1 paper
NM_014607.4
p.E212K
c.634G>A
1 paper
NM_014607.4
p.L274M
c.820T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."