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

1–12 of 43 variants

3 papers

NM_002814.4

p.E182A

c.545A>C

2 papers

NM_002814.4

p.Q61L

c.182A>T

2 papers

NM_002814.4

p.G106D

c.317G>A

1 paper

NM_002814.4

p.M1V

c.1A>G

1 paper

NM_002814.4

p.L8delFs

c.23delA

1 paper

NM_002814.4

p.C11*

c.33C>A

1 paper

NM_002814.4

p.L13delFs

c.37delG

1 paper

NM_002814.4

p.K23E

c.67A>G

1 paper

NM_002814.4

p.I26delFs

c.76delT

1 paper

NM_002814.4

p.S31F

c.92C>T

1 paper

NM_002814.4

p.T36T

c.108T>C

1 paper

NM_002814.4

p.D37N

c.109G>A