Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.K211delFs

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.K211delFs
c.631delT
Surrounding Variants
1 paper
NM_032802.4
p.F218_S219del1
c.653_655delTAA
1 paper
NM_032802.4
p.A200V
c.599C>T
1 paper
NM_032802.4
p.A200S
c.598G>T
2 papers
NM_032802.4
p.I225L
c.673A>T
1 paper
NM_032802.4
p.L221_C230del0
c.663_689del27
1 paper
NM_032802.4
p.M234ins7
c.700_701ins21
1 paper
NM_032802.4
p.L237insFs
c.710dupT
9 papers
NM_032802.4
p.V245Splc
c.733+1G>A
1 paper
NM_032802.4
p.Y246H
c.736T>C
1 paper
NM_032802.4
p.L267V
c.799C>G
1 paper
NM_032802.4
p.Y273insFs
c.817dupT
1 paper
NM_032802.4
p.Y273_G274delFs
c.819_822del4
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