Varaico: Literature-Extracted Genetic Variants

JAM3

71 papers

RefSeq Summary

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and wat...

Pfam Domains

V-setaa 36–136UCSCImmunoglobulin V-set domain

Ig_3aa 138–223UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

junctional adhesion molecule 3

HGNC Alias Symbols

JAM-C; JAMC; JAM-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032801.5

p.Y171insFs

c.512dupA

Surrounding Variants

2 papers

NM_032801.5

p.H170Q

c.510C>A

2 papers

NM_032801.5

p.H170Q

c.510C>G

1 paper

NM_032801.5

p.R175H

c.524G>A

1 paper

NM_032801.5

p.P181P

c.543C>A

1 paper

NM_032801.5

p.R185I

c.554G>T

1 paper

NM_032801.5

p.P151T

c.451C>A

1 paper

NM_032801.5

p.K148R

c.443A>G

1 paper

NM_032801.5

p.C144S

c.431G>C

1 paper

NM_032801.5

p.C144S

c.430T>A

2 papers

NM_032801.5

p.E200*

c.598G>T

1 paper

NM_032801.5

p.V140M

c.418G>A

2 papers

NM_032801.5

p.V137fs

c.409_410fs