Varaico: Literature-Extracted Genetic Variants

ADRM1

66 papers

RefSeq Summary

This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitin...

Pfam Domains

Rpn13_ADRM1_Pruaa 23–91UCSCProteasome complex subunit Rpn13, Pru domain

RPN13_Caa 229–342UCSCUCH-binding domain

Gene Aliases

HGNC Name

ADRM1 26S proteasome ubiquitin receptor

HGNC Alias Symbols

GP110; Rpn13; ARM1; PSMD16

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

3 papers

NM_007002.4

p.T240N

c.719C>A

2 papers

NM_007002.4

p.D79N

c.235G>A

2 papers

NM_007002.4

p.G249R

c.745G>A

2 papers

NM_007002.4

p.G249R

c.745G>C

2 papers

NM_007002.4

p.K397ins3

c.1189_1190ins9

1 paper

NM_007002.4

p.T3S

c.7A>T

1 paper

NM_007002.4

p.P13L

c.38C>T

1 paper

NM_007002.4

p.N20S

c.59A>G

1 paper

NM_007002.4

p.V24V

c.72G>C

1 paper

NM_007002.4

p.E25D

c.75G>C

1 paper

NM_007002.4

p.D53E

c.159C>G

1 paper

NM_007002.4

p.I57V

c.169A>G