Varaico: Literature-Extracted Genetic Variants

Gene:USP14
Variant:p.G73W

USP14

271 papers

RefSeq Summary

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and...

Pfam Domains

UCHaa 105–480UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 14

HGNC Alias Symbols

TGT; Ubp6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005151.4
p.G73W
c.217G>T
Surrounding Variants
1 paper
NM_005151.4
p.M72_G73insFs
c.216_217insA
1 paper
NM_005151.4
p.M72K
c.215T>A
1 paper
NM_005151.4
p.S74insFs
c.221_222ins5
1 paper
NM_005151.4
p.L70insFs
c.208_209insC
1 paper
NM_005151.4
p.L69L
c.207A>G
1 paper
NM_005151.4
p.L69I
c.205C>A
3 papers
NM_005151.4
p.L78_P79delFs
c.233_236del4
3 papers
NM_005151.4
p.L78fs
c.232_233fs
1 paper
NM_005151.4
p.M67K
c.200T>A
1 paper
NM_005151.4
p.P79delFs
c.235delC
1 paper
NM_005151.4
p.E80G
c.239A>G
1 paper
NM_005151.4
p.P82L
c.245C>T
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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."