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.S926*

c.2777C>A

Surrounding Variants

1 paper

NM_016580.4

p.S926*

c.2777C>G

2 papers

NM_016580.4

p.P922fs

c.2764_2765fs

1 paper

NM_016580.4

p.G918S

c.2752G>A

1 paper

NM_016580.4

p.R912W

c.2734C>T

1 paper

NM_016580.4

p.R946W

c.2836C>T

1 paper

NM_016580.4

p.R902K

c.2705G>A

1 paper

NM_016580.4

p.V954L

c.2860G>T

1 paper

NM_016580.4

p.T953_V954insFs

c.2859_2860insT

1 paper

NM_016580.4

p.V954L

c.2860G>C

2 papers

NM_016580.4

p.P886L

c.2657C>T

1 paper

NM_016580.4

p.P879S

c.2635C>T

1 paper

NM_016580.4

p.P879A

c.2635C>G