Varaico: Literature-Extracted Genetic Variants

Gene:USP6

USP6

239 papers

Pfam Domains

RabGAP-TBCaa 103–312UCSCRab-GTPase-TBC domain
UCHaa 532–1366UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 6

HGNC Previous Symbols

HRP1; TRESMCR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 224 variants
19 papers
NM_001304284.2
p.R133K
c.398G>A
11 papers
NM_001304284.2
p.K66Q
c.196A>C
11 papers
NM_001304284.2
p.R96L
c.287G>T
10 papers
NM_001304284.2
p.R69W
c.205C>T
9 papers
NM_001304284.2
p.R68W
c.202C>T
9 papers
NM_001304284.2
p.T72R
c.215C>G
8 papers
NM_001304284.2
p.I67M
c.201T>G
8 papers
NM_001304284.2
p.H89N
c.265C>A
8 papers
NM_001304284.2
p.G125R
c.373G>A
8 papers
NM_001304284.2
p.Q128K
c.382C>A
7 papers
NM_001304284.2
p.L121S
c.362T>C
7 papers
NM_001304284.2
p.G125R
c.373G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."