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

2 papers

NM_032801.5

p.T296A

c.886A>G

Surrounding Variants

1 paper

NM_032801.5

p.R295H

c.884G>A

1 paper

NM_032801.5

p.G290*

c.868G>T

1 paper

NM_032801.5

p.K287T

c.860A>C

1 paper

NM_032801.5

p.K287R

c.860A>G

1 paper

NM_032801.5

p.K283R

c.848A>G

3 papers

NM_032801.5

p.S281Splc

c.843-3T>C

3 papers

NM_032801.5

p.Y271*

c.813C>A

3 papers

NM_032801.5

p.Y271*

c.813C>G

1 paper

NM_032801.5

p.I259insFs

c.776_777insG

2 papers

NM_032801.5

p.V251F

c.751G>T

3 papers

NM_032801.5

p.V249fs

c.745_746fs

3 papers

NM_032801.5

p.V249insFs

c.745dupG