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.L191L

c.573G>A

Surrounding Variants

1 paper

NM_000442.5

p.D185_Q186Fs

c.554_558delinsGFs

1 paper

NM_000442.5

p.R179S

c.537A>T

1 paper

NM_000442.5

p.R179S

c.537A>C

1 paper

NM_000442.5

p.C206Y

c.617G>A

1 paper

NM_000442.5

p.K173R

c.518A>G

1 paper

NM_000442.5

p.N171insFs

c.512dupA

1 paper

NM_000442.5

p.N171N

c.513T>C

1 paper

NM_000442.5

p.E169V

c.506A>T

1 paper

NM_000442.5

p.E169K

c.505G>A

1 paper

NM_000442.5

p.T218A

c.652A>G

1 paper

NM_000442.5

p.F163_T164Fs

c.489_490delinsTFs

2 papers

NM_000442.5

p.E157_I161del5

c.469_482del15