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

5 papers

NM_002804.5

p.S376Splc

c.1127+337A>G

Surrounding Variants

2 papers

NM_002804.5

p.S376Splc

c.1127+337A>C

2 papers

NM_002804.5

p.S376fs

c.1126_1127fs

1 paper

NM_002804.5

p.P355L

c.1064C>T

1 paper

NM_002804.5

p.R350C

c.1048C>T

1 paper

NM_002804.5

p.K327R

c.980A>G

1 paper

NM_002804.5

p.K327E

c.979A>G

1 paper

NM_002804.5

p.K327Q

c.979A>C

1 paper

NM_002804.5

p.P377L

c.1130C>T

1 paper

NM_002804.5

p.V379M

c.1135G>A

2 papers

NM_002804.5

p.E383K

c.1147G>A

2 papers

NM_002804.5

p.M310T

c.929T>C

1 paper

NM_002804.5

p.R386H

c.1157G>A