Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.W303_A304insFs

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.W303_A304insFs
c.909_910insA
Surrounding Variants
1 paper
NM_032802.4
p.L295_F306del12
c.883_917del36
1 paper
NM_032802.4
p.L292_L295delFs
c.875_885del11
1 paper
NM_032802.4
p.I290I
c.870T>A
1 paper
NM_032802.4
p.M285I
c.855G>T
1 paper
NM_032802.4
p.M285I
c.855G>C
1 paper
NM_032802.4
p.M285I
c.855G>A
1 paper
NM_032802.4
p.M285V
c.853A>G
1 paper
NM_032802.4
p.N284insFs
c.850_851ins4
1 paper
NM_032802.4
p.R281H
c.842G>A
1 paper
NM_032802.4
p.Y273_G274delFs
c.819_822del4
1 paper
NM_032802.4
p.Y273insFs
c.817dupT
1 paper
NM_032802.4
p.L267V
c.799C>G
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