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

5 papers

NM_001080471.3

p.N903D

c.2707A>G

Surrounding Variants

1 paper

NM_001080471.3

p.N903S

c.2708A>G

4 papers

NM_001080471.3

p.R885H

c.2654G>A

1 paper

NM_001080471.3

p.P932R

c.2795C>G

1 paper

NM_001080471.3

p.G936E

c.2807G>A

1 paper

NM_001080471.3

p.G882Splc

c.2644+32G>A

1 paper

NM_001080471.3

p.E940K

c.2818G>A

1 paper

NM_001080471.3

p.M946V

c.2836A>G

1 paper

NM_001080471.3

p.D963N

c.2887G>A

1 paper

NM_001080471.3

p.R967W

c.2899C>T

1 paper

NM_001080471.3

p.Q971_P982del12

c.2911_2945del36

1 paper

NM_001080471.3

p.H861Y

c.2581C>T

4 papers

NM_001080471.3

p.N848K

c.2544C>A