Varaico: Literature-Extracted Genetic Variants

Gene:USP14
Variant:p.F186L

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.F186L
c.558T>G
Surrounding Variants
1 paper
NM_005151.4
p.F186L
c.558T>A
1 paper
NM_005151.4
p.F186L
c.556T>C
1 paper
NM_005151.4
p.G190A
c.569G>C
1 paper
NM_005151.4
p.E191delFs
c.573delA
1 paper
NM_005151.4
p.Q192*
c.574C>T
1 paper
NM_005151.4
p.Q192delFs
c.575_576delAA
1 paper
NM_005151.4
p.H180_M181insFs
c.540_541insA
1 paper
NM_005151.4
p.Q177H
c.531G>C
1 paper
NM_005151.4
p.Q177H
c.531G>T
1 paper
NM_005151.4
p.I174F
c.520A>T
2 papers
NM_005151.4
p.P172S
c.514C>T
1 paper
NM_005151.4
p.P171insFs
c.512_513ins4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."