Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.E99_R102del0

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.E99_R102del0
c.295_306del12
Surrounding Variants
1 paper
NM_032802.4
p.I103T
c.308T>C
1 paper
NM_032802.4
p.A104T
c.310G>A
1 paper
NM_032802.4
p.Q105_K106insFs
c.315_316insA
1 paper
NM_032802.4
p.E99_Q105delFs
c.297_313del17
1 paper
NM_032802.4
p.K106_G107insT
c.316_320ins3
2 papers
NM_032802.4
p.C95delFs
c.284delC
1 paper
NM_032802.4
p.M112_L113insFs
c.336_337insG
1 paper
NM_032802.4
p.P91P
c.273A>G
1 paper
NM_032802.4
p.V81I
c.241G>A
1 paper
NM_032802.4
p.S76F
c.227C>T
1 paper
NM_032802.4
p.S61_I62insFs
c.183_184insCC
4 papers
NM_032802.4
p.N126D
c.376A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."