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.N392K

c.1176C>G

Surrounding Variants

1 paper

NM_001080471.3

p.N392K

c.1176C>A

1 paper

NM_001080471.3

p.C391C

c.1173C>T

1 paper

NM_001080471.3

p.H400H

c.1200T>C

5 papers

NM_001080471.3

p.S381F

c.1142C>T

1 paper

NM_001080471.3

p.H407H

c.1221C>T

1 paper

NM_001080471.3

p.C410S

c.1228T>A

1 paper

NM_001080471.3

p.C410S

c.1229G>C

1 paper

NM_001080471.3

p.T430P

c.1288A>C

1 paper

NM_001080471.3

p.S372Splc

c.1116-117C>G

1 paper

NM_001080471.3

p.C438S

c.1312T>A

1 paper

NM_001080471.3

p.C438S

c.1313G>C

1 paper

NM_001080471.3

p.C438F

c.1313G>T