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.C22Splc

c.65-6T>G

Surrounding Variants

1 paper

NM_000442.5

p.C22Splc

c.65-6T>C

3 papers

NM_000442.5

p.C22Splc

c.65-1G>T

2 papers

NM_000442.5

p.S24G

c.70A>G

1 paper

NM_000442.5

p.G27S

c.79G>A

1 paper

NM_000442.5

p.Q28delFs

c.82delG

1 paper

NM_000442.5

p.E29_N30insFs

c.87_88insC

1 paper

NM_000442.5

p.E29Fs

c.85_87delinsTFs

1 paper

NM_000442.5

p.E29_N30delFs

c.85_88del4

1 paper

NM_000442.5

p.Q28_N30delFs

c.82_88del7

1 paper

NM_000442.5

p.N30N

c.90C>T

1 paper

NM_000442.5

p.E29_N30delFs

c.87_88delTT

1 paper

NM_000442.5

p.N30delFs

c.90delG