Varaico: Literature-Extracted Genetic Variants

PCDH9

120 papers

RefSeq Summary

This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the p...

Pfam Domains

Cadherin_2aa 25–118UCSCCadherin-like

Cadherinaa 147–243UCSCCadherin domain

Cadherinaa 257–349UCSCCadherin domain

Cadherinaa 370–460UCSCCadherin domain

Cadherinaa 474–563UCSCCadherin domain

Cadherinaa 577–666UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin 9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203487.3

p.F515S

c.1544T>C

Surrounding Variants

1 paper

NM_203487.3

p.N511H

c.1531A>C

1 paper

NM_203487.3

p.D497E

c.1491C>G

1 paper

NM_203487.3

p.D497E

c.1491C>A

1 paper

NM_203487.3

p.D546N

c.1636G>A

3 papers

NM_203487.3

p.D546D

c.1638C>T

1 paper

NM_203487.3

p.S477L

c.1430C>T

1 paper

NM_203487.3

p.T561S

c.1682C>G

1 paper

NM_203487.3

p.D567N

c.1699G>A

1 paper

NM_203487.3

p.E462K

c.1384G>A

1 paper

NM_203487.3

p.S569N

c.1706G>A

1 paper

NM_203487.3

p.E460K

c.1378G>A

1 paper

NM_203487.3

p.N575delFs

c.1723_1724delTT