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.R57Q

c.170G>A

Surrounding Variants

1 paper

NM_001080471.3

p.P62S

c.184C>T

1 paper

NM_001080471.3

p.R45H

c.134G>A

1 paper

NM_001080471.3

p.R45C

c.133C>T

1 paper

NM_001080471.3

p.E41D

c.123G>C

1 paper

NM_001080471.3

p.E41D

c.123G>T

1 paper

NM_001080471.3

p.T69Splc

c.206+91G>A

1 paper

NM_001080471.3

p.Y72H

c.214T>C

1 paper

NM_001080471.3

p.R73W

c.217C>T

3 papers

NM_001080471.3

p.R77C

c.229C>T

1 paper

NM_001080471.3

p.R77H

c.230G>A

1 paper

NM_001080471.3

p.T82M

c.245C>T

1 paper

NM_001080471.3

p.R87H

c.260G>A