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.I128ins2

c.382_383ins6

Surrounding Variants

1 paper

NM_203487.3

p.I128ins1

c.382_383insCAG

1 paper

NM_203487.3

p.V132D

c.395T>A

1 paper

NM_203487.3

p.V132insFs

c.395_396insT

1 paper

NM_203487.3

p.T135S

c.403A>T

1 paper

NM_203487.3

p.T135S

c.404C>G

1 paper

NM_203487.3

p.M141L

c.421A>T

1 paper

NM_203487.3

p.M141L

c.421A>C

1 paper

NM_203487.3

p.A139_M141ins1

c.415_423dup9

1 paper

NM_203487.3

p.P145L

c.434C>T

1 paper

NM_203487.3

p.E108D

c.324G>T

1 paper

NM_203487.3

p.N107H

c.319A>C

1 paper

NM_203487.3

p.E106G

c.317A>G