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.S609Splc

c.1825+3G>A

Surrounding Variants

1 paper

NM_001080471.3

p.G586D

c.1757G>A

1 paper

NM_001080471.3

p.K583N

c.1749G>C

1 paper

NM_001080471.3

p.K583N

c.1749G>T

1 paper

NM_001080471.3

p.Y638F

c.1913A>T

1 paper

NM_001080471.3

p.H541R

c.1622A>G

1 paper

NM_001080471.3

p.H541L

c.1622A>T

1 paper

NM_001080471.3

p.R536H

c.1607G>A

1 paper

NM_001080471.3

p.Q528H

c.1584G>C

1 paper

NM_001080471.3

p.Q528H

c.1584G>T

1 paper

NM_001080471.3

p.P651Splc

c.1951+30C>A

1 paper

NM_001080471.3

p.L522P

c.1565T>C

1 paper

NM_001080471.3

p.C520W

c.1560C>G