Varaico: Literature-Extracted Genetic Variants

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

1–12 of 385 variants

18 papers

NM_007366.5

p.H300D

c.898C>G

16 papers

NM_007366.5

p.M292V

c.874A>G

11 papers

NM_007366.5

p.G1106S

c.3316G>A

4 papers

NM_007366.5

p.S6_G14delins

c.18_40delinsGCTGCTGCTGCTGCTGCTGG

4 papers

NM_007366.5

p.R142Q

c.425G>A

4 papers

NM_007366.5

p.R404H

c.1211G>A

3 papers

NM_007366.5

p.Y499C

c.1496A>G

3 papers

NM_007366.5

p.V680L

c.2038G>T

3 papers

NM_007366.5

p.V680L

c.2038G>C

2 papers

NM_007366.5

p.S95F

c.284C>T

2 papers

NM_007366.5

p.G175R

c.523G>C

2 papers

NM_007366.5

p.G175R

c.523G>A