Varaico: Literature-Extracted Genetic Variants

PSMD10

69 papers

RefSeq Summary

This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This ...

Pfam Domains

Ank_2aa 8–103UCSCAnkyrin repeats (3 copies)

Ank_2aa 63–136UCSCAnkyrin repeats (3 copies)

Ank_2aa 89–169UCSCAnkyrin repeats (3 copies)

Ank_2aa 143–221UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 10

HGNC Alias Symbol

p28

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002814.4

p.E182A

c.545A>C

Surrounding Variants

1 paper

NM_002814.4

p.E186K

c.556G>A

1 paper

NM_002814.4

p.L209R

c.626T>G

1 paper

NM_002814.4

p.Q210H

c.630A>T

1 paper

NM_002814.4

p.Q210H

c.630A>C

1 paper

NM_002814.4

p.G215R

c.643G>C

1 paper

NM_002814.4

p.G172D

c.515G>A

1 paper

NM_002814.4

p.N166I

c.497A>T

1 paper

NM_002814.4

p.A140D

c.419C>A

1 paper

NM_002814.4

p.G129R

c.385G>C

1 paper

NM_002814.4

p.G129R

c.385G>A

1 paper

NM_002814.4

p.L126R

c.377T>G

1 paper

NM_002814.4

p.E120_I121Splc

c.360+2T>C