Varaico: Literature-Extracted Genetic Variants

Gene:USP14
Variant:p.E250K

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.E250K
c.748G>A
Surrounding Variants
1 paper
NM_005151.4
p.G248D
c.743G>A
1 paper
NM_005151.4
p.S237F
c.710C>T
2 papers
NM_005151.4
p.A233_P236del4
c.697_707del12
1 paper
NM_005151.4
p.A231T
c.691G>A
1 paper
NM_005151.4
p.S229L
c.686C>T
3 papers
NM_005151.4
p.D227N
c.679G>A
1 paper
NM_005151.4
p.A217G
c.650C>G
1 paper
NM_005151.4
p.E216*
c.646G>T
1 paper
NM_005151.4
p.K214R
c.641A>G
1 paper
NM_005151.4
p.K214E
c.640A>G
1 paper
NM_005151.4
p.I205T
c.614T>C
1 paper
NM_005151.4
p.E202A
c.605A>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."