Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.P47L

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.P47L
c.140C>T
Surrounding Variants
1 paper
NM_032802.4
p.P47P
c.141T>A
1 paper
NM_032802.4
p.N35_L44del10
c.103_131del30
1 paper
NM_032802.4
p.T37I
c.110C>T
1 paper
NM_032802.4
p.N35_G36insFs
c.104_107dup4
1 paper
NM_032802.4
p.N35insFs
c.105dupT
3 papers
NM_032802.4
p.G34E
c.101G>A
1 paper
NM_032802.4
p.S61_I62insFs
c.183_184insCC
1 paper
NM_032802.4
p.S76F
c.227C>T
1 paper
NM_032802.4
p.V81I
c.241G>A
1 paper
NM_032802.4
p.P91P
c.273A>G
2 papers
NM_032802.4
p.C95delFs
c.284delC
1 paper
NM_032802.4
p.E99_R102del0
c.295_306del12
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