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.S700fs

c.2098_2099fs

Surrounding Variants

1 paper

NM_000442.5

p.E699insFs

c.2096_2097insA

16 papers

NM_000442.5

p.R670G

c.2008A>G

9 papers

NM_000442.5

p.Y663F

c.1988A>T

1 paper

NM_000442.5

p.Y713F

c.2138A>T

1 paper

NM_000442.5

p.D722N

c.2164G>A

1 paper

NM_000442.5

p.K629R

c.1886A>G

1 paper

NM_000442.5

p.I609I

c.1827C>T

2 papers

NM_000442.5

p.L603F

c.1807C>T

1 paper

NM_000442.5

p.K601E

c.1801A>G

1 paper

NM_000442.5

p.T591I

c.1772C>T

1 paper

NM_000442.5

p.G568E

c.1703G>A

31 papers

NM_000442.5

p.S563N

c.1688G>A