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

1–12 of 179 variants

7 papers

NM_016580.4

p.R839*

c.2515C>T

5 papers

NM_016580.4

p.R151*

c.451C>T

4 papers

NM_016580.4

p.R1182ins3

c.3545_3546ins9

4 papers

NM_016580.4

p.S1180_R1182ins1

c.3540_3545dup6

3 papers

NM_016580.4

p.K224fs

c.670_671fs

3 papers

NM_016580.4

p.T261M

c.782C>T

3 papers

NM_016580.4

p.S640N

c.1919G>A

3 papers

NM_016580.4

p.E837delFs

c.2511delC

2 papers

NM_016580.4

p.L5insFs

c.14dupT

2 papers

NM_016580.4

p.V40L

c.118G>T

2 papers

NM_016580.4

p.V40L

c.118G>C

2 papers

NM_016580.4

p.R55G

c.163C>G