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

9 papers

NM_001080471.3

p.S234P

c.700T>C

Surrounding Variants

1 paper

NM_001080471.3

p.T232S

c.695C>G

1 paper

NM_001080471.3

p.T232S

c.694A>T

1 paper

NM_001080471.3

p.C229delFs

c.687delC

1 paper

NM_001080471.3

p.C229fs

c.685_686fs

1 paper

NM_001080471.3

p.T224T

c.672T>A

1 paper

NM_001080471.3

p.S219fs

c.655_656fs

1 paper

NM_001080471.3

p.D217N

c.649G>A

1 paper

NM_001080471.3

p.W254R

c.760T>C

1 paper

NM_001080471.3

p.F267_H268insFs

c.801_802insA

1 paper

NM_001080471.3

p.Q274H

c.822G>C

1 paper

NM_001080471.3

p.Q274H

c.822G>T

1 paper

NM_001080471.3

p.H279H

c.837C>T