Varaico: Literature-Extracted Genetic Variants

PSMC3

79 papers

RefSeq Summary

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identic...

Pfam Domains

Prot_ATP_ID_OB_Caa 90–165UCSCProteasomal ATPase OB C-terminal domain

AAAaa 223–356UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 378–422UCSCAAA+ lid domain

Gene Aliases

HGNC Name

proteasome 26S subunit, ATPase 3

HGNC Alias Symbols

TBP1; TBP-1; RPT5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002804.5

p.N6D

c.16A>G

Surrounding Variants

1 paper

NM_002804.5

p.L4L

c.12G>C

1 paper

NM_002804.5

p.L4L

c.12G>A

1 paper

NM_002804.5

p.M1insFs

c.1_2ins49

1 paper

NM_002804.5

p.T12A

c.34A>G

1 paper

NM_002804.5

p.Q14L

c.41A>T

1 paper

NM_002804.5

p.E25_Q26Splc

c.75+1G>T

1 paper

NM_002804.5

p.D27G

c.80A>G

1 paper

NM_002804.5

p.G30V

c.89G>T

1 paper

NM_002804.5

p.T38R

c.113C>G

1 paper

NM_002804.5

p.A68V

c.203C>T

1 paper

NM_002804.5

p.E78Q

c.232G>C

1 paper

NM_002804.5

p.T85T

c.255C>A