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.D321E

c.963T>A

Surrounding Variants

1 paper

NM_016580.4

p.D321E

c.963T>G

1 paper

NM_016580.4

p.Y318C

c.953A>G

1 paper

NM_016580.4

p.I332N

c.995T>A

1 paper

NM_016580.4

p.I332delFs

c.995delA

1 paper

NM_016580.4

p.R307H

c.920G>A

1 paper

NM_016580.4

p.I340L

c.1018A>C

1 paper

NM_016580.4

p.V354delFs

c.1060delC

2 papers

NM_016580.4

p.V354fs

c.1060_1061fs

1 paper

NM_016580.4

p.I352_V354del3

c.1054_1061del9

1 paper

NM_016580.4

p.V354_T355delFs

c.1062_1063delTG

1 paper

NM_016580.4

p.W356*

c.1067G>A

1 paper

NM_016580.4

p.W356*

c.1068G>A