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

4 papers

NM_001795.5

p.V359I

c.1075G>A

Surrounding Variants

3 papers

NM_001795.5

p.A353T

c.1057G>A

1 paper

NM_001795.5

p.D367G

c.1100A>G

1 paper

NM_001795.5

p.P370L

c.1109C>T

1 paper

NM_001795.5

p.I371fs

c.1111_1112fs

1 paper

NM_001795.5

p.D345E

c.1035C>A

1 paper

NM_001795.5

p.D345E

c.1035C>G

1 paper

NM_001795.5

p.D345N

c.1033G>A

2 papers

NM_001795.5

p.Q380*

c.1138C>T

1 paper

NM_001795.5

p.I336L

c.1006A>C

1 paper

NM_001795.5

p.L325P

c.974T>C

1 paper

NM_001795.5

p.M396insFs

c.1186_1187ins10

1 paper

NM_001795.5

p.M396fs

c.1186_1187fs