Varaico: Literature-Extracted Genetic Variants

JAM2

39 papers

RefSeq Summary

This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight jun...

Pfam Domains

V-setaa 33–131UCSCImmunoglobulin V-set domain

Ig_3aa 136–218UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

junctional adhesion molecule 2

HGNC Previous Symbol

C21orf43

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021219.4

p.E88K

c.262G>A

Surrounding Variants

1 paper

NM_021219.4

p.D91H

c.271G>C

1 paper

NM_021219.4

p.I96delFs

c.287delT

1 paper

NM_021219.4

p.V99E

c.296T>A

3 papers

NM_021219.4

p.R108H

c.323G>A

1 paper

NM_021219.4

p.E116K

c.346G>A

1 paper

NM_021219.4

p.G118D

c.353G>A

1 paper

NM_021219.4

p.E122K

c.364G>A

1 paper

NM_021219.4

p.V132L

c.394G>C

1 paper

NM_021219.4

p.F72L

c.216T>A

1 paper

NM_021219.4

p.F72L

c.216T>G

1 paper

NM_021219.4

p.F72L

c.214T>C

1 paper

NM_021219.4

p.V70I

c.208G>A