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.V566L

c.1696G>C

Surrounding Variants

1 paper

NM_016580.4

p.A558D

c.1673C>A

1 paper

NM_016580.4

p.V579M

c.1735G>A

1 paper

NM_016580.4

p.G586G

c.1758C>T

1 paper

NM_016580.4

p.Q542P

c.1625A>C

1 paper

NM_016580.4

p.S522_Y525del4

c.1564_1574del12

1 paper

NM_016580.4

p.A519_L523delFs

c.1556_1569del14

1 paper

NM_016580.4

p.T610A

c.1828A>G

1 paper

NM_016580.4

p.A519fs

c.1555_1556fs

1 paper

NM_016580.4

p.R614W

c.1840C>T

1 paper

NM_016580.4

p.R614R

c.1842G>A

1 paper

NM_016580.4

p.T514P

c.1540A>C

1 paper

NM_016580.4

p.S512F

c.1535C>T