Varaico: Literature-Extracted Genetic Variants

PCDH12

131 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane doma...

Pfam Domains

Cadherin_2aa 31–114UCSCCadherin-like

Cadherinaa 140–235UCSCCadherin domain

Cadherinaa 250–343UCSCCadherin domain

Cadherinaa 360–451UCSCCadherin domain

Cadherinaa 465–556UCSCCadherin domain

Cadherinaa 612–694UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 12

HGNC Alias Name

VE-cadherin-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016580.4

p.R470Q

c.1409G>A

Surrounding Variants

1 paper

NM_016580.4

p.E461Q

c.1381G>C

1 paper

NM_016580.4

p.H485Y

c.1453C>T

1 paper

NM_016580.4

p.I448_Q449del2

c.1342_1346del6

1 paper

NM_016580.4

p.G490V

c.1469G>T

1 paper

NM_016580.4

p.I448T

c.1343T>C

1 paper

NM_016580.4

p.L440_L446delFs

c.1320_1336del17

1 paper

NM_016580.4

p.K443N

c.1329G>T

1 paper

NM_016580.4

p.K443N

c.1329G>C

2 papers

NM_016580.4

p.R498H

c.1493G>A

1 paper

NM_016580.4

p.A442fs

c.1324_1325fs

1 paper

NM_016580.4

p.V504I

c.1510G>A

1 paper

NM_016580.4

p.D434E

c.1302C>G