Varaico: Literature-Extracted Genetic Variants

Gene:JAM2
Variant:p.R60*

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
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
3 papers
NM_021219.4
p.R60*
c.178A>T
Surrounding Variants
3 papers
NM_021219.4
p.S59_R60delFs
c.177_180del4
1 paper
NM_021219.4
p.S58S
c.174C>G
1 paper
NM_021219.4
p.V70I
c.208G>A
3 papers
NM_021219.4
p.L48*
c.143T>A
3 papers
NM_021219.4
p.L48*
c.143T>G
1 paper
NM_021219.4
p.F72L
c.214T>C
1 paper
NM_021219.4
p.F72L
c.216T>A
1 paper
NM_021219.4
p.F72L
c.216T>G
3 papers
NM_021219.4
p.I47delFs
c.140delT
1 paper
NM_021219.4
p.E88K
c.262G>A
1 paper
NM_021219.4
p.D91H
c.271G>C
1 paper
NM_021219.4
p.I96delFs
c.287delT
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