Varaico: Literature-Extracted Genetic Variants

Gene:PLA2R1
Variant:p.S57L

PLA2R1

124 papers

RefSeq Summary

This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phosphol...

Pfam Domains

CysR_MRC2_Naa 37–160UCSCMRC2-like, N-terminal cysteine-rich domain
fn2aa 178–219UCSCFibronectin type II domain
Lectin_Caa 249–356UCSCLectin C-type domain
Lectin_Caa 395–503UCSCLectin C-type domain
Lectin_Caa 547–645UCSCLectin C-type domain
Lectin_Caa 688–798UCSCLectin C-type domain

Gene Aliases

HGNC Name

phospholipase A2 receptor 1

HGNC Alias Symbols

PLA2G1R; PLA2IR; PLA2-R; CLEC13C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007366.5
p.S57L
c.170C>T
Surrounding Variants
1 paper
NM_007366.5
p.V58I
c.172G>A
1 paper
NM_007366.5
p.C64W
c.192C>G
1 paper
NM_007366.5
p.Q66fs
c.196_197fs
1 paper
NM_007366.5
p.S45N
c.134G>A
1 paper
NM_007366.5
p.V42delFs
c.126delA
1 paper
NM_007366.5
p.G80S
c.238G>A
1 paper
NM_007366.5
p.G85R
c.253G>C
1 paper
NM_007366.5
p.G85R
c.253G>A
1 paper
NM_007366.5
p.S87R
c.259A>C
1 paper
NM_007366.5
p.S87R
c.261T>G
1 paper
NM_007366.5
p.S87S
c.261T>C
1 paper
NM_007366.5
p.S87R
c.261T>A
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