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.K690R

c.2069A>G

Surrounding Variants

1 paper

NM_001795.5

p.P691T

c.2071C>A

2 papers

NM_001795.5

p.Q687R

c.2060A>G

4 papers

NM_001795.5

p.Y685F

c.2054A>T

1 paper

NM_001795.5

p.S683C

c.2048C>G

1 paper

NM_001795.5

p.R681W

c.2041C>T

1 paper

NM_001795.5

p.A680D

c.2039C>A

1 paper

NM_001795.5

p.A680T

c.2038G>A

2 papers

NM_001795.5

p.G703R

c.2107G>A

2 papers

NM_001795.5

p.G703R

c.2107G>C

1 paper

NM_001795.5

p.A706T

c.2116G>A

4 papers

NM_001795.5

p.P673L

c.2018C>T

1 paper

NM_001795.5

p.K672R

c.2015A>G