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.D60V

c.179A>T

Surrounding Variants

2 papers

NM_000442.5

p.S65C

c.194C>G

1 paper

NM_000442.5

p.L55M

c.163C>A

2 papers

NM_000442.5

p.L53_T54delFs

c.157_161del5

1 paper

NM_000442.5

p.C57_S65delFs

c.171_193del23

1 paper

NM_000442.5

p.N52_L53del1

c.155_157delGGT

1 paper

NM_000442.5

p.G50G

c.150G>T

1 paper

NM_000442.5

p.Q48L

c.143A>T

1 paper

NM_000442.5

p.M73L

c.217A>T

1 paper

NM_000442.5

p.Y76C

c.227A>G

1 paper

NM_000442.5

p.D44Y

c.130G>T

1 paper

NM_000442.5

p.D44H

c.130G>C

1 paper

NM_000442.5

p.D78A

c.233A>C