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.H385N

c.1153C>A

Surrounding Variants

1 paper

NM_016580.4

p.S383L

c.1148C>T

1 paper

NM_016580.4

p.S383*

c.1148C>G

1 paper

NM_016580.4

p.S383*

c.1148C>A

1 paper

NM_016580.4

p.D380N

c.1138G>A

1 paper

NM_016580.4

p.W392*

c.1175G>A

1 paper

NM_016580.4

p.W392*

c.1176G>A

1 paper

NM_016580.4

p.R401G

c.1201A>G

1 paper

NM_016580.4

p.S364insFs

c.1091dupC

1 paper

NM_016580.4

p.L362L

c.1084C>T

1 paper

NM_016580.4

p.W356*

c.1068G>A

1 paper

NM_016580.4

p.W356*

c.1067G>A

1 paper

NM_016580.4

p.V354_T355delFs

c.1062_1063delTG