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.R727W

c.2179C>T

Surrounding Variants

1 paper

NM_203487.3

p.V718E

c.2153T>A

1 paper

NM_203487.3

p.L713Q

c.2138T>A

1 paper

NM_203487.3

p.P741S

c.2221C>T

1 paper

NM_203487.3

p.T744N

c.2231C>A

1 paper

NM_203487.3

p.G708R

c.2122G>C

1 paper

NM_203487.3

p.G708R

c.2122G>A

1 paper

NM_203487.3

p.Y760N

c.2278T>A

1 paper

NM_203487.3

p.L689H

c.2066T>A

1 paper

NM_203487.3

p.T766M

c.2297C>T

1 paper

NM_203487.3

p.P679P

c.2037G>A

1 paper

NM_203487.3

p.P679L

c.2036C>T

1 paper

NM_203487.3

p.L787insFs

c.2359_2360ins4