Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2B
Variant:p.L106_A107del1

SPPL2B

30 papers

RefSeq Summary

This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. T...

Pfam Domains

PAaa 64–151UCSCPA domain
Peptidase_A22Baa 213–505UCSCSignal peptide peptidase

Gene Aliases

HGNC Name

signal peptide peptidase like 2B

HGNC Alias Symbols

PSL1; KIAA1532

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152988.3
p.L106_A107del1
c.318_320delGGC
Surrounding Variants
2 papers
NM_152988.3
p.V140V
c.420G>A
1 paper
NM_152988.3
p.R157C
c.469C>T
1 paper
NM_152988.3
p.L237M
c.709C>A
1 paper
NM_152988.3
p.L246H
c.737T>A
1 paper
NM_152988.3
p.L274fs
c.820_821fs
1 paper
NM_152988.3
p.L274_P275insFs
c.822_823insC
1 paper
NM_152988.3
p.F276insFs
c.826dupT
1 paper
NM_152988.3
p.S34P
c.100T>C
1 paper
NM_152988.3
p.S34A
c.100T>G
1 paper
NM_152988.3
p.D359A
c.1076A>C
1 paper
NM_152988.3
p.F362del1
c.1084_1086delTTC
2 papers
NM_152988.3
p.G420A
c.1259G>C
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