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.P651Splc

c.1952-501G>T

Surrounding Variants

1 paper

NM_001080471.3

p.T672A

c.2014A>G

1 paper

NM_001080471.3

p.L697P

c.2090T>C

2 papers

NM_001080471.3

p.Q709P

c.2126A>C

1 paper

NM_001080471.3

p.P712S

c.2134C>T

1 paper

NM_001080471.3

p.P712L

c.2135C>T

1 paper

NM_001080471.3

p.E714*

c.2140G>T

1 paper

NM_001080471.3

p.C734Y

c.2201G>A

1 paper

NM_001080471.3

p.I736V

c.2206A>G

1 paper

NM_001080471.3

p.P651Splc

c.1951+30C>A

1 paper

NM_001080471.3

p.Y638F

c.1913A>T

1 paper

NM_001080471.3

p.P749S

c.2245C>T

1 paper

NM_001080471.3

p.S754L

c.2261C>T