Varaico: Literature-Extracted Genetic Variants

PEAR1

135 papers

RefSeq Summary

PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471...

Pfam Domains

EGF_PEAR1Laa 97–145UCSCPlatelet endothelial aggregation receptor 1-like, EGF domain

EGF_lamininaa 275–321UCSCLaminin EGF domain

EGF_lamininaa 319–365UCSCLaminin EGF domain

EGF_lamininaa 537–582UCSCLaminin EGF domain

EGF_lamininaa 580–624UCSCLaminin EGF domain

EGF_lamininaa 622–667UCSCLaminin EGF domain

Gene Aliases

HGNC Name

platelet endothelial aggregation receptor 1

HGNC Previous Symbol

MEGF12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080471.3

p.D314G

c.941A>G

Surrounding Variants

1 paper

NM_001080471.3

p.R310L

c.929G>T

1 paper

NM_001080471.3

p.D324_F328del0

c.971_982del12

1 paper

NM_001080471.3

p.R326L

c.977G>T

1 paper

NM_001080471.3

p.H338Y

c.1012C>T

1 paper

NM_001080471.3

p.T341I

c.1022C>T

4 papers

NM_001080471.3

p.D343N

c.1027G>A

1 paper

NM_001080471.3

p.R301W

c.901C>T

1 paper

NM_001080471.3

p.Y297*

c.891C>A

1 paper

NM_001080471.3

p.Y297*

c.891C>G

1 paper

NM_001080471.3

p.R367W

c.1099C>T

1 paper

NM_001080471.3

p.R367Q

c.1100G>A

1 paper

NM_001080471.3

p.H369N

c.1105C>A