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.A413V

c.1238C>T

Surrounding Variants

1 paper

NM_203487.3

p.V414V

c.1242A>G

1 paper

NM_203487.3

p.F409Y

c.1226T>A

1 paper

NM_203487.3

p.Q418K

c.1252C>A

1 paper

NM_203487.3

p.D428E

c.1284C>A

1 paper

NM_203487.3

p.K433R

c.1298A>G

1 paper

NM_203487.3

p.I439F

c.1315A>T

1 paper

NM_203487.3

p.A441A

c.1323C>T

1 paper

NM_203487.3

p.K382_I383insCAG

c.1144_1148ins9

1 paper

NM_203487.3

p.K382_I383ins6

c.1144_1148ins18

1 paper

NM_203487.3

p.A453S

c.1357G>T

1 paper

NM_203487.3

p.E460K

c.1378G>A

1 paper

NM_203487.3

p.E462K

c.1384G>A