Varaico: Literature-Extracted Genetic Variants

Gene:JAM2
Variant:p.W168C

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.W168C
c.504G>T
Surrounding Variants
3 papers
NM_021219.4
p.W168C
c.504G>C
1 paper
NM_021219.4
p.D171insFs
c.512dupA
1 paper
NM_021219.4
p.P164T
c.490C>A
1 paper
NM_021219.4
p.R174H
c.521G>A
1 paper
NM_021219.4
p.P162Q
c.485C>A
1 paper
NM_021219.4
p.E177_R180del4
c.529_539del12
1 paper
NM_021219.4
p.L181I
c.541C>A
2 papers
NM_021219.4
p.R154Q
c.461G>A
1 paper
NM_021219.4
p.R154*
c.460C>T
1 paper
NM_021219.4
p.L153V
c.457C>G
1 paper
NM_001270407.2
p.L117ins2
c.349_350ins6
1 paper
NM_021219.4
p.Y190C
c.569A>G
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