Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.L7L

SPPL2A

67 papers

RefSeq Summary

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a m...

Pfam Domains

PAaa 60–148UCSCPA domain
Peptidase_A22Baa 210–496UCSCSignal peptide peptidase

Gene Aliases

HGNC Name

signal peptide peptidase like 2A

HGNC Alias Symbol

PSL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032802.4
p.L7L
c.21G>A
Surrounding Variants
1 paper
NM_032802.4
p.Q4H
c.12G>T
1 paper
NM_032802.4
p.Q4H
c.12G>C
1 paper
NM_032802.4
p.A12V
c.35C>T
1 paper
NM_032802.4
p.G2V
c.5G>T
1 paper
NM_032802.4
p.M1T
c.2T>C
1 paper
NM_032802.4
p.M1K
c.2T>A
2 papers
NM_032802.4
p.M1V
c.1A>G
1 paper
NM_032802.4
p.M1L
c.1A>C
1 paper
NM_032802.4
p.M1insFs
c.1_2ins13
1 paper
NM_032802.4
p.A12_L15delFs
c.35_44del10
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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."