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

Selected Variant

1 paper

NM_001795.5

p.Y302del1

c.904_906delTAC

Surrounding Variants

1 paper

NM_001795.5

p.D301E

c.903C>A

1 paper

NM_001795.5

p.D301E

c.903C>G

3 papers

NM_001795.5

p.R299Q

c.896G>A

1 paper

NM_001795.5

p.R299W

c.895C>T

1 paper

NM_001795.5

p.F306I

c.916T>A

1 paper

NM_001795.5

p.K294N

c.882G>C

1 paper

NM_001795.5

p.K294N

c.882G>T

1 paper

NM_001795.5

p.T310A

c.928A>G

2 papers

NM_001795.5

p.P312S

c.934C>T

1 paper

NM_001795.5

p.E283D

c.849G>C

1 paper

NM_001795.5

p.E283D

c.849G>T

1 paper

NM_001795.5

p.K320*

c.958A>T