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.W515S

c.1544G>C

Surrounding Variants

1 paper

NM_001080471.3

p.C511R

c.1531T>C

1 paper

NM_001080471.3

p.C520W

c.1560C>G

1 paper

NM_001080471.3

p.L522P

c.1565T>C

1 paper

NM_001080471.3

p.G487C

c.1459G>T

1 paper

NM_001080471.3

p.P483P

c.1449C>T

1 paper

NM_001080471.3

p.N476D

c.1426A>G

1 paper

NM_001080471.3

p.Q473*

c.1417C>T

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.R536H

c.1607G>A

1 paper

NM_001080471.3

p.H541R

c.1622A>G

1 paper

NM_001080471.3

p.H541L

c.1622A>T