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

2 papers

NM_203487.3

p.V78V

c.234T>A

Surrounding Variants

1 paper

NM_203487.3

p.K77T

c.230A>C

1 paper

NM_203487.3

p.T82insFs

c.244_245insC

1 paper

NM_203487.3

p.P74P

c.222T>C

1 paper

NM_203487.3

p.I85S

c.254T>G

1 paper

NM_203487.3

p.N90_R91ins2

c.270_271ins6

1 paper

NM_203487.3

p.N90_R91insFs

c.270_271ins4

1 paper

NM_203487.3

p.R65K

c.194G>A

1 paper

NM_203487.3

p.A60G

c.179C>G

1 paper

NM_203487.3

p.A60T

c.178G>A

1 paper

NM_203487.3

p.H51L

c.152A>T

1 paper

NM_203487.3

p.E106G

c.317A>G

1 paper

NM_203487.3

p.N107H

c.319A>C