Varaico: Literature-Extracted Genetic Variants

Gene:CDH5
Variant:p.W51R

CDH5

266 papers

RefSeq Summary

This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesio...

Pfam Domains

Cadherinaa 52–142UCSCCadherin domain
Cadherinaa 156–249UCSCCadherin domain
Cadherinaa 263–364UCSCCadherin domain
Cadherinaa 377–470UCSCCadherin domain
Cadherinaa 483–576UCSCCadherin domain
CADH_Y-type_LIRaa 716–775UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 5

HGNC Alias Symbols

7B4; CD144

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001795.5
p.W51R
c.151T>A
Surrounding Variants
1 paper
NM_001795.5
p.W51R
c.151T>C
1 paper
NM_001795.5
p.I50T
c.149T>C
2 papers
NM_001795.5
p.N52Y
c.154A>T
1 paper
NM_001795.5
p.Q53L
c.158A>T
2 papers
NM_001795.5
p.D48V
c.143A>T
1 paper
NM_001795.5
p.M54K
c.161T>A
1 paper
NM_001795.5
p.R44C
c.130C>T
1 paper
NM_001795.5
p.E59A
c.176A>C
1 paper
NM_001795.5
p.L39delFs
c.115delC
1 paper
NM_001795.5
p.T35T
c.105C>G
1 paper
NM_001795.5
p.G69D
c.206G>A
1 paper
NM_001795.5
p.A25E
c.74C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."