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.V279A

c.836T>C

Surrounding Variants

2 papers

NM_016580.4

p.E280*

c.838G>T

1 paper

NM_016580.4

p.S284G

c.850A>G

3 papers

NM_016580.4

p.T261M

c.782C>T

1 paper

NM_016580.4

p.R307H

c.920G>A

1 paper

NM_016580.4

p.L249insFs

c.745dupC

1 paper

NM_016580.4

p.A243V

c.728C>T

1 paper

NM_016580.4

p.A243E

c.728C>A

1 paper

NM_016580.4

p.Y318C

c.953A>G

1 paper

NM_016580.4

p.S237_N238delins

c.711_714delinsATCCCCAGTA

1 paper

NM_016580.4

p.D321E

c.963T>G

1 paper

NM_016580.4

p.D321E

c.963T>A

1 paper

NM_016580.4

p.V234I

c.700G>A