Varaico: Literature-Extracted Genetic Variants

Gene:USP17L18
Variant:p.Q430H

USP17L18

16 papers

Pfam Domains

UCHaa 80–372UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 17 like family member 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256859.1
p.Q430H
c.1290G>C
Surrounding Variants
1 paper
NM_001256859.1
p.Q430H
c.1290G>T
2 papers
NM_001256859.1
p.S364T
c.1091G>C
1 paper
NM_001256859.1
p.T310P
c.928A>C
1 paper
NM_001256859.1
p.N84I
c.251A>T
3 papers
NM_001256859.1
p.T35S
c.104C>G
2 papers
NM_001256859.1
p.T35S
c.103A>T
1 paper
NM_001256859.1
p.R34Q
c.101G>A
1 paper
NM_001256859.1
p.R34_T35delins
c.101_104delinsAGAG
2 papers
NM_001256859.1
p.F29V
c.85T>G
1 paper
NM_001256859.1
p.P25P
c.75C>A
3 papers
NM_001256859.1
p.S23P
c.67T>C
3 papers
NM_001256859.1
p.Y7*
c.21C>A
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