Varaico: Literature-Extracted Genetic Variants

Gene:JCAD
Variant:p.H668Q

JCAD

115 papers

RefSeq Summary

This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema dist...

Pfam Domains

JCADaa 1–1348UCSCJunctional protein associated with coronary artery disease

Gene Aliases

HGNC Name

junctional cadherin 5 associated

HGNC Previous Symbol

KIAA1462

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020848.4
p.H668Q
c.2004C>G
Surrounding Variants
1 paper
NM_020848.4
p.H668Q
c.2004C>A
1 paper
NM_020848.4
p.D663N
c.1987G>A
1 paper
NM_020848.4
p.S678F
c.2033C>T
2 papers
NM_020848.4
p.S680A
c.2038T>G
1 paper
NM_020848.4
p.R685W
c.2053C>T
1 paper
NM_020848.4
p.R644T
c.1931G>C
1 paper
NM_020848.4
p.G643E
c.1928G>A
1 paper
NM_020848.4
p.S719G
c.2155A>G
1 paper
NM_020848.4
p.P617Q
c.1850C>A
1 paper
NM_020848.4
p.P720_K721del1
c.2160_2162delTTT
1 paper
NM_020848.4
p.F736L
c.2206T>C
1 paper
NM_020848.4
p.F736L
c.2208C>G
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