Varaico: Literature-Extracted Genetic Variants

PECAM1

421 papers

RefSeq Summary

The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The ...

Pfam Domains

Ig_2aa 327–404UCSCImmunoglobulin domain

Ig_C17orf99aa 409–496UCSCC17orf99 Ig domain

Ig_3aa 504–576UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

platelet and endothelial cell adhesion molecule 1

HGNC Alias Symbol

CD31

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000442.5

p.Y713F

c.2138A>T

Surrounding Variants

1 paper

NM_000442.5

p.D722N

c.2164G>A

1 paper

NM_000442.5

p.S700fs

c.2098_2099fs

1 paper

NM_000442.5

p.E699insFs

c.2096_2097insA

16 papers

NM_000442.5

p.R670G

c.2008A>G