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

1–12 of 37 variants

3 papers

NM_005805.6

p.C120S

c.358T>A

3 papers

NM_005805.6

p.C120S

c.359G>C

2 papers

NM_005805.6

p.E60K

c.178G>A

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.M1V

c.1A>G

1 paper

NM_005805.6

p.R3*

c.7A>T

1 paper

NM_005805.6

p.R6K

c.17G>A

1 paper

NM_005805.6

p.P12S

c.34C>T

1 paper

NM_005805.6

p.P19R

c.56C>G

1 paper

NM_005805.6

p.S35S

c.105C>T

1 paper

NM_005805.6

p.K40R

c.119A>G