Varaico: Literature-Extracted Genetic Variants

PSMD6

46 papers

RefSeq Summary

This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degrad...

Pfam Domains

RPN7aa 66–239UCSC26S proteasome subunit RPN7

PCIaa 257–358UCSCPCI domain

RPN7_PSMD6_Caa 365–387UCSC26S proteasome regulatory subunit RPN7/PSMD6 C-terminal helix

Gene Aliases

HGNC Name

proteasome 26S subunit, non-ATPase 6

HGNC Alias Symbols

p44S10; KIAA0107; Rpn7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

3 papers

NM_014814.3

p.G341R

c.1021G>C

3 papers

NM_014814.3

p.G341R

c.1021G>A

2 papers

NM_014814.3

p.A133S

c.397G>T

1 paper

NM_014814.3

p.E4D

c.12G>C

1 paper

NM_014814.3

p.E4E

c.12G>A

1 paper

NM_014814.3

p.Q21R

c.62A>G

1 paper

NM_014814.3

p.E40K

c.118G>A

1 paper

NM_014814.3

p.E40A

c.119A>C

1 paper

NM_014814.3

p.D85N

c.253G>A

1 paper

NM_014814.3

p.K93E

c.277A>G

1 paper

NM_014814.3

p.E99K

c.295G>A

1 paper

NM_014814.3

p.S98_E99delFs

c.292_296del5