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

1–12 of 154 variants

9 papers

NM_001080471.3

p.S234P

c.700T>C

5 papers

NM_001080471.3

p.S381F

c.1142C>T

5 papers

NM_001080471.3

p.N903D

c.2707A>G

4 papers

NM_001080471.3

p.S155L

c.464C>T

4 papers

NM_001080471.3

p.D343N

c.1027G>A

4 papers

NM_001080471.3

p.N848K

c.2544C>A

4 papers

NM_001080471.3

p.N848K

c.2544C>G

4 papers

NM_001080471.3

p.R885H

c.2654G>A

3 papers

NM_001080471.3

p.R77C

c.229C>T

2 papers

NM_001080471.3

p.A209T

c.625G>A

2 papers

NM_001080471.3

p.G281C

c.841G>T

2 papers

NM_001080471.3

p.Q709P

c.2126A>C