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

1–12 of 80 variants

6 papers

NM_032801.5

p.E116K

c.346G>A

6 papers

NM_032801.5

p.C230W

c.690T>G

5 papers

NM_032801.5

p.C219Y

c.656G>A

4 papers

NM_032801.5

p.M1R

c.2T>G

4 papers

NM_032801.5

p.G86Splc

c.256+1260G>C

3 papers

NM_032801.5

p.V137Splc

c.410-1G>A

3 papers

NM_032801.5

p.L204_V205Splc

c.612+1G>T

3 papers

NM_032801.5

p.V249insFs

c.745dupG

3 papers

NM_032801.5

p.V249fs

c.745_746fs

3 papers

NM_032801.5

p.Y271*

c.813C>A

3 papers

NM_032801.5

p.Y271*

c.813C>G

3 papers

NM_032801.5

p.S281Splc

c.843-3T>C