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

1–12 of 166 variants

31 papers

NM_000442.5

p.S563N

c.1688G>A

16 papers

NM_000442.5

p.R670G

c.2008A>G

12 papers

NM_000442.5

p.V125L

c.373G>T

12 papers

NM_000442.5

p.V125L

c.373G>C

9 papers

NM_000442.5

p.Y663F

c.1988A>T

3 papers

NM_000442.5

p.C22Splc

c.65-1G>T

3 papers

NM_000442.5

p.V80M

c.238G>A

3 papers

NM_000442.5

p.V135V

c.405G>C

3 papers

NM_000442.5

p.A485G

c.1454C>G

3 papers

NM_000442.5

p.T738A

c.2212A>G

2 papers

NM_000442.5

p.M1T

c.2T>C

2 papers

NM_000442.5

p.R4S

c.12G>C