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

4 papers

NM_016580.4

p.S1180_R1182ins1

c.3540_3545dup6

Surrounding Variants

2 papers

NM_016580.4

p.S1179_R1182ins1

c.3537_3545dup9

2 papers

NM_016580.4

p.C1183S

c.3547T>A

1 paper

NM_016580.4

p.R1182ins2

c.3545_3546ins6

4 papers

NM_016580.4

p.R1182ins3

c.3545_3546ins9

2 papers

NM_016580.4

p.C1183S

c.3548G>C

1 paper

NM_016580.4

p.S1178_S1179ins6

c.3534_3535ins18

1 paper

NM_016580.4

p.D1149Y

c.3445G>T

1 paper

NM_016580.4

p.S1140L

c.3419C>T

1 paper

NM_016580.4

p.S1140*

c.3419C>A

1 paper

NM_016580.4

p.R1124C

c.3370C>T

2 papers

NM_016580.4

p.G1091S

c.3271G>A

1 paper

NM_016580.4

p.P1084P

c.3252A>G