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.E132Q

c.394G>C

Surrounding Variants

1 paper

NM_032801.5

p.Q136*

c.406C>T

1 paper

NM_032801.5

p.R120*

c.358C>T

6 papers

NM_032801.5

p.E116K

c.346G>A

1 paper

NM_032801.5

p.C115S

c.344G>C

1 paper

NM_032801.5

p.C115S

c.343T>A

1 paper

NM_032801.5

p.R114G

c.340C>G

2 papers

NM_032801.5

p.R114C

c.340C>T

2 papers

NM_032801.5

p.R108K

c.323G>A

1 paper

NM_032801.5

p.N104S

c.311A>G

1 paper

NM_032801.5

p.S99Y

c.296C>A

1 paper

NM_032801.5

p.K97R

c.290A>G

1 paper

NM_032801.5

p.G96delFs

c.287delG