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.T164K

c.491C>A

Surrounding Variants

1 paper

NM_016580.4

p.L160V

c.478C>G

1 paper

NM_016580.4

p.T171insFs

c.512dupC

1 paper

NM_016580.4

p.S175fs

c.523_524fs

1 paper

NM_016580.4

p.L142_T152ins3

c.424_456dup33

1 paper

NM_016580.4

p.S175fs

c.523_524fs

1 paper

NM_016580.4

p.L174_S175delFs

c.522_525del4

5 papers

NM_016580.4

p.R151*

c.451C>T

1 paper

NM_016580.4

p.L150fs

c.448_449fs

1 paper

NM_016580.4

p.L150delFs

c.448_449delAG

1 paper

NM_016580.4

p.L150fs

c.448_449fs

2 papers

NM_016580.4

p.S147I

c.440G>T

1 paper

NM_016580.4

p.R134_F135del2

c.400_404del6