Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.M378V

USP53

90 papers

Pfam Domains

UCHaa 31–348UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 53

HGNC Alias Symbol

KIAA1350

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371395.1
p.M378V
c.1132A>G
Surrounding Variants
1 paper
NM_001371395.1
p.W368C
c.1104G>C
1 paper
NM_001371395.1
p.W368C
c.1104G>T
1 paper
NM_001371395.1
p.L362P
c.1085T>C
1 paper
NM_001371395.1
p.G353D
c.1058G>A
3 papers
NM_001371395.1
p.C339fs
c.1015_1016fs
9 papers
NM_001371395.1
p.R338*
c.1012C>T
3 papers
NM_001371395.1
p.C339_G353delFs
c.1017_1057del41
1 paper
NM_001371395.1
p.I337F
c.1009A>T
1 paper
NM_001371395.1
p.D331_V332del1
c.993_995delTGT
2 papers
NM_001371395.1
p.E324_I325Splc
c.973-1G>A
1 paper
NM_001371395.1
p.C380insFs
c.1140dupT
1 paper
NM_001371395.1
p.E381*
c.1141G>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."