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

1 paper

NM_002814.4

p.D71A

c.212A>C

Surrounding Variants

1 paper

NM_002814.4

p.D68G

c.203A>G

1 paper

NM_002814.4

p.L62H

c.185T>A

2 papers

NM_002814.4

p.Q61L

c.182A>T

1 paper

NM_002814.4

p.Q61P

c.182A>C

1 paper

NM_002814.4

p.E57delFs

c.170delT

1 paper

NM_002814.4

p.E57K

c.169G>A

1 paper

NM_002814.4

p.S49L

c.146C>T

1 paper

NM_002814.4

p.D39A

c.116A>C

1 paper

NM_002814.4

p.A72A

c.216A>T

1 paper

NM_002814.4

p.S75T

c.223T>A

1 paper

NM_002814.4

p.S75F

c.224C>T

1 paper

NM_002814.4

p.P76A

c.226C>G