Varaico: Literature-Extracted Genetic Variants

PSMA6

36 papers

RefSeq Summary

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed...

Pfam Domains

Proteasome_A_Naa 9–31UCSCProteasome subunit A N-terminal signature

Proteasomeaa 32–220UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit alpha 6

HGNC Alias Symbols

IOTA; PROS27; p27K; MGC22756; MGC2333; MGC23846

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002791.3

p.I72I

c.216A>T

Surrounding Variants

1 paper

NM_002791.3

p.V79V

c.237G>A

1 paper

NM_002791.3

p.G82A

c.245G>C

1 paper

NM_002791.3

p.D62G

c.185A>G

1 paper

NM_002791.3

p.D58fs

c.172_173fs

1 paper

NM_002791.3

p.T52R

c.155C>G

1 paper

NM_002791.3

p.A48P

c.142G>C

1 paper

NM_002791.3

p.L37F

c.109C>T

1 paper

NM_002791.3

p.I32L

c.94A>C

1 paper

NM_002791.3

p.R95G

c.283C>G

1 paper

NM_002791.3

p.R95C

c.283C>T

1 paper

NM_002791.3

p.E97K

c.289G>A

1 paper

NM_002791.3

p.R117T

c.350G>C