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.Y7delFs

c.19delA

Surrounding Variants

1 paper

NM_203487.3

p.R4S

c.12G>T

1 paper

NM_203487.3

p.R4S

c.12G>C

1 paper

NM_203487.3

p.A11V

c.32C>T

1 paper

NM_203487.3

p.M1T

c.2T>C

1 paper

NM_203487.3

p.L18_A21del4

c.52_62del12

1 paper

NM_203487.3

p.T29S

c.85A>T

1 paper

NM_203487.3

p.T29S

c.86C>G

1 paper

NM_203487.3

p.P35A

c.103C>G

1 paper

NM_203487.3

p.H51L

c.152A>T

1 paper

NM_203487.3

p.A60T

c.178G>A

1 paper

NM_203487.3

p.A60G

c.179C>G

1 paper

NM_203487.3

p.R65K

c.194G>A