Varaico: Literature-Extracted Genetic Variants

Gene:PLPPR5
Variant:p.A187fs

PLPPR5

39 papers

RefSeq Summary

The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glyc...

Pfam Domains

PAP2aa 122–275UCSCPAP2 superfamily

Gene Aliases

HGNC Name

phospholipid phosphatase related 5

HGNC Alias Symbols

PAP2D; PAP2; LPPR5; PRG5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037317.2
p.A187fs
c.559_560fs
Surrounding Variants
1 paper
NM_001037317.2
p.A187D
c.560C>A
1 paper
NM_001037317.2
p.A187insFs
c.559_560insAA
1 paper
NM_001037317.2
p.A187_R188delFs
c.560_563del4
1 paper
NM_001037317.2
p.I184L
c.550A>C
1 paper
NM_001037317.2
p.A196E
c.587C>A
1 paper
NM_001037317.2
p.S199N
c.596G>A
1 paper
NM_001037317.2
p.E175K
c.523G>A
1 paper
NM_001037317.2
p.E174D
c.522A>T
1 paper
NM_001037317.2
p.E174D
c.522A>C
1 paper
NM_001037317.2
p.S172G
c.514A>G
1 paper
NM_001037317.2
p.L206P
c.617T>C
1 paper
NM_001037317.2
p.Q166H
c.498G>T
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