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

1–12 of 49 variants

5 papers

NM_021219.4

p.R229*

c.685C>T

3 papers

NM_021219.4

p.M1V

c.1A>G

3 papers

NM_021219.4

p.I47delFs

c.140delT

3 papers

NM_021219.4

p.L48*

c.143T>A

3 papers

NM_021219.4

p.L48*

c.143T>G

3 papers

NM_021219.4

p.S59_R60delFs

c.177_180del4

3 papers

NM_021219.4

p.R60*

c.178A>T

3 papers

NM_021219.4

p.R108H

c.323G>A

3 papers

NM_021219.4

p.W168C

c.504G>C

3 papers

NM_021219.4

p.W168C

c.504G>T

2 papers

NM_021219.4

p.R4S

c.12G>C

2 papers

NM_021219.4

p.R154Q

c.461G>A