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.K423_G424insFs

c.1269_1270insTA

Surrounding Variants

1 paper

NM_000442.5

p.E420K

c.1258G>A

1 paper

NM_000442.5

p.R430C

c.1288C>T

1 paper

NM_000442.5

p.D416G

c.1247A>G

1 paper

NM_000442.5

p.C431W

c.1293C>G

1 paper

NM_000442.5

p.C431delFs

c.1293delG

1 paper

NM_000442.5

p.E432fs

c.1294_1295fs

1 paper

NM_000442.5

p.S433delFs

c.1298delG

1 paper

NM_000442.5

p.P439delFs

c.1315delG

1 paper

NM_000442.5

p.Q443Q

c.1329A>G

1 paper

NM_000442.5

p.E452delFs

c.1355delT

1 paper

NM_000442.5

p.N459I

c.1376A>T

1 paper

NM_000442.5

p.F464_N467delFs

c.1392_1401del10