Varaico: Literature-Extracted Genetic Variants

PSMD14

47 papers

RefSeq Summary

This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a...

Pfam Domains

JABaa 26–139UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

RPN11_Caa 228–307UCSC26S proteasome regulatory subunit RPN11 C-terminal domain

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 14

HGNC Alias Symbols

POH1; pad1; Rpn11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005805.6

p.G110R

c.328G>C

Surrounding Variants

1 paper

NM_005805.6

p.G110C

c.328G>T

2 papers

NM_005805.6

p.H113Q

c.339C>A

2 papers

NM_005805.6

p.H113Q

c.339C>G

1 paper

NM_005805.6

p.G117D

c.350G>A

1 paper

NM_005805.6

p.G117A

c.350G>C

1 paper

NM_005805.6

p.G117V

c.350G>T

3 papers

NM_005805.6

p.C120S

c.358T>A

3 papers

NM_005805.6

p.C120S

c.359G>C

1 paper

NM_005805.6

p.A135T

c.403G>A

1 paper

NM_005805.6

p.A135A

c.405C>A

1 paper

NM_005805.6

p.I148T

c.443T>C

1 paper

NM_005805.6

p.K154E

c.460A>G