Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.I156_Y161delFs

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.I156_Y161delFs
c.467_483del17
Surrounding Variants
1 paper
NM_032802.4
p.I178N
c.533T>A
1 paper
NM_032802.4
p.V183_A184insCC
c.547_551ins6
1 paper
NM_032802.4
p.Y188_W189delFs
c.563_566del4
1 paper
NM_032802.4
p.S128_E129ins0
c.382_387dup6
1 paper
NM_032802.4
p.E129insFs
c.387dupA
4 papers
NM_032802.4
p.N126D
c.376A>G
1 paper
NM_032802.4
p.M112_L113insFs
c.336_337insG
1 paper
NM_032802.4
p.K106_G107insT
c.316_320ins3
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.A104T
c.310G>A
1 paper
NM_032802.4
p.I103T
c.308T>C
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