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.L13fs

c.37_38fs

Surrounding Variants

1 paper

NM_000442.5

p.W12_L13delFs

c.36_37delGC

1 paper

NM_000442.5

p.M11delFs

c.31_32delAT

2 papers

NM_000442.5

p.T10S

c.28A>T

1 paper

NM_000442.5

p.A6V

c.17C>T

2 papers

NM_000442.5

p.R4S

c.12G>C

1 paper

NM_000442.5

p.P3insFs

c.7dupC

1 paper

NM_000442.5

p.Q2*

c.4C>T

1 paper

NM_000442.5

p.M1insFs

c.2_3insAG

2 papers

NM_000442.5

p.M1T

c.2T>C

1 paper

NM_000442.5

p.M1K

c.2T>A

1 paper

NM_000442.5

p.C22Splc

c.65-6T>G

1 paper

NM_000442.5

p.C22Splc

c.65-6T>C