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

8 papers

NM_001795.5

p.I517T

c.1550T>C

Surrounding Variants

1 paper

NM_001795.5

p.I517delins

c.1550_1551delinsCT

1 paper

NM_001795.5

p.I517insFs

c.1549_1550insC

1 paper

NM_001795.5

p.I517fs

c.1549_1550fs

1 paper

NM_001795.5

p.I517delFs

c.1550delT

1 paper

NM_001795.5

p.I517fs

c.1549_1550fs

2 papers

NM_001795.5

p.I517I

c.1551C>T

1 paper

NM_001795.5

p.E521A

c.1562A>C

1 paper

NM_001795.5

p.N522_T525del4

c.1564_1574del12

2 papers

NM_001795.5

p.R510Q

c.1529G>A

1 paper

NM_001795.5

p.D528N

c.1582G>A

1 paper

NM_001795.5

p.I503T

c.1508T>C

2 papers

NM_001795.5

p.I500T

c.1499T>C