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.K89insFs

c.265_266insT

Surrounding Variants

1 paper

NM_000442.5

p.S87_M88del2

c.259_263del6

1 paper

NM_000442.5

p.F82_M88del7

c.244_263del21

1 paper

NM_000442.5

p.I85_M88del4

c.253_263del12

1 paper

NM_000442.5

p.K89fs

c.265_266fs

1 paper

NM_000442.5

p.S87F

c.260C>T

1 paper

NM_000442.5

p.S87_M88insC

c.259_263ins3

1 paper

NM_000442.5

p.K89_S90del2

c.265_269del6

1 paper

NM_000442.5

p.I85Fs

c.255delinsGGFs

1 paper

NM_000442.5

p.N84delFs

c.251_252delGT

1 paper

NM_000442.5

p.N84I

c.251A>T

1 paper

NM_000442.5

p.M88_Y94del7

c.262_281del21

1 paper

NM_000442.5

p.V80E

c.239T>A