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

2 papers

NM_016580.4

p.R55G

c.163C>G

Surrounding Variants

1 paper

NM_016580.4

p.E56K

c.166G>A

1 paper

NM_016580.4

p.L53M

c.157C>A

1 paper

NM_016580.4

p.E52K

c.154G>A

1 paper

NM_016580.4

p.Q51R

c.152A>G

1 paper

NM_016580.4

p.Q61*

c.181C>T

1 paper

NM_016580.4

p.Q61K

c.181C>A

1 paper

NM_016580.4

p.V45delFs

c.134_135delCA

2 papers

NM_016580.4

p.V40L

c.118G>T

2 papers

NM_016580.4

p.V40L

c.118G>C

1 paper

NM_016580.4

p.E39G

c.116A>G

1 paper

NM_016580.4

p.E39delFs

c.115delC

1 paper

NM_016580.4

p.A74V

c.221C>T