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

7 papers

NM_016580.4

p.R839*

c.2515C>T

Surrounding Variants

1 paper

NM_016580.4

p.R839Q

c.2516G>A

2 papers

NM_016580.4

p.S838fs

c.2512_2513fs

3 papers

NM_016580.4

p.E837delFs

c.2511delC

1 paper

NM_016580.4

p.D844N

c.2530G>A

1 paper

NM_016580.4

p.T845M

c.2534C>T

1 paper

NM_016580.4

p.Q813*

c.2437C>T

1 paper

NM_016580.4

p.E867K

c.2599G>A

1 paper

NM_016580.4

p.W808*

c.2424G>A

1 paper

NM_016580.4

p.W808*

c.2423G>A

1 paper

NM_016580.4

p.P879S

c.2635C>T

1 paper

NM_016580.4

p.P879A

c.2635C>G

2 papers

NM_016580.4

p.P886L

c.2657C>T