Varaico: Literature-Extracted Genetic Variants

Gene:CDH4
Variant:p.L554L

CDH4

134 papers

RefSeq Summary

This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmem...

Pfam Domains

Cadherin_proaa 30–121UCSCCadherin prodomain like
Cadherinaa 174–268UCSCCadherin domain
Cadherinaa 282–383UCSCCadherin domain
Cadherinaa 397–499UCSCCadherin domain
Cadherinaa 512–606UCSCCadherin domain
CADH_Y-type_LIRaa 853–911UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 4

HGNC Alias Symbol

R-CAD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001794.5
p.L554L
c.1662G>A
Surrounding Variants
1 paper
NM_001794.5
p.R543Splc
c.1629-5C>T
1 paper
NM_001794.5
p.D570Y
c.1708G>T
1 paper
NM_001794.5
p.D570V
c.1709A>T
3 papers
NM_001794.5
p.A583S
c.1747G>T
1 paper
NM_001794.5
p.V542M
c.1624G>A
1 paper
NM_001794.5
p.F537L
c.1611C>A
1 paper
NM_001794.5
p.F537L
c.1611C>G
1 paper
NM_001794.5
p.F537L
c.1609T>C
1 paper
NM_001794.5
p.P534L
c.1601C>T
1 paper
NM_001794.5
p.D533Y
c.1597G>T
1 paper
NM_001794.5
p.F529insFs
c.1587dupT
1 paper
NM_001794.5
p.V525M
c.1573G>A
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