Varaico: Literature-Extracted Genetic Variants

Gene:SENP2
Variant:p.L153L

SENP2

75 papers

RefSeq Summary

SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjuga...

Pfam Domains

Peptidase_C48aa 409–588UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 2

HGNC Alias Symbols

SMT3IP2; KIAA1331; DKFZp762A2316; AXAM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021627.3
p.L153L
c.457T>C
Surrounding Variants
1 paper
NM_021627.3
p.R165L
c.494G>T
1 paper
NM_021627.3
p.K169R
c.506A>G
1 paper
NM_021627.3
p.E187K
c.559G>A
1 paper
NM_021627.3
p.K195R
c.584A>G
1 paper
NM_021627.3
p.E206_G207Splc
c.618+987C>A
1 paper
NM_021627.3
p.G207S
c.619G>A
1 paper
NM_021627.3
p.R222*
c.664C>T
1 paper
NM_021627.3
p.C233_P234delFs
c.697_700del4
1 paper
NM_021627.3
p.S231fs
c.691_692fs
1 paper
NM_021627.3
p.N238D
c.712A>G
1 paper
NM_021627.3
p.Q246*
c.736C>T
1 paper
NM_021627.3
p.K253R
c.758A>G
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