Varaico: Literature-Extracted Genetic Variants

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

1–12 of 216 variants

8 papers

NM_001795.5

p.I517T

c.1550T>C

4 papers

NM_001795.5

p.G12D

c.35G>A

4 papers

NM_001795.5

p.V359I

c.1075G>A

4 papers

NM_001795.5

p.P673L

c.2018C>T

4 papers

NM_001795.5

p.Y685F

c.2054A>T

3 papers

NM_001795.5

p.R299Q

c.896G>A

3 papers

NM_001795.5

p.A353T

c.1057G>A

3 papers

NM_001795.5

p.Y731F

c.2192A>T

3 papers

NM_001795.5

p.N761K

c.2283C>A

3 papers

NM_001795.5

p.N761K

c.2283C>G

2 papers

NM_001795.5

p.G12V

c.35G>T

2 papers

NM_001795.5

p.D48V

c.143A>T