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

4 papers

NM_032801.5

p.G86Splc

c.256+1260G>C

Surrounding Variants

1 paper

NM_032801.5

p.N82S

c.245A>G

1 paper

NM_032801.5

p.Y77delFs

c.230_231delAT

1 paper

NM_032801.5

p.E66K

c.196G>A

2 papers

NM_032801.5

p.E66Q

c.196G>C

1 paper

NM_032801.5

p.P63T

c.187C>A

1 paper

NM_032801.5

p.T56M

c.167C>T

1 paper

NM_032801.5

p.I55T

c.164T>C

1 paper

NM_032801.5

p.S48T

c.143G>C

1 paper

NM_032801.5

p.S48T

c.143G>C

1 paper

NM_032801.5

p.E47K

c.139G>A

1 paper

NM_032801.5

p.T40A

c.118A>G

1 paper

NM_032801.5

p.R39delFs

c.115delC