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

6 papers

NM_032801.5

p.C230W

c.690T>G

Surrounding Variants

1 paper

NM_032801.5

p.C230_E231del2

c.688_692del6

1 paper

NM_032801.5

p.D224insFs

c.670_671insA

2 papers

NM_032801.5

p.Y238Splc

c.712+2T>A

5 papers

NM_032801.5

p.C219Y

c.656G>A

1 paper

NM_032801.5

p.V205L

c.613G>C

1 paper

NM_032801.5

p.V205L

c.613G>T

1 paper

NM_032801.5

p.V205fs

c.613_614fs

1 paper

NM_032801.5

p.L204_V205Splc

c.612+8C>A

3 papers

NM_032801.5

p.L204_V205Splc

c.612+1G>T

2 papers

NM_032801.5

p.E200*

c.598G>T

1 paper

NM_032801.5

p.R185I

c.554G>T

1 paper

NM_032801.5

p.P181P

c.543C>A