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.F188fs

c.562_563fs

Surrounding Variants

1 paper

NM_203487.3

p.F188delFs

c.564delA

1 paper

NM_203487.3

p.S186T

c.557G>C

1 paper

NM_203487.3

p.V176L

c.526G>T

1 paper

NM_203487.3

p.V176L

c.526G>C

1 paper

NM_203487.3

p.G172insFs

c.514dupG

1 paper

NM_203487.3

p.V206F

c.616G>T

1 paper

NM_203487.3

p.V206D

c.617T>A

1 paper

NM_203487.3

p.K215K

c.645A>G

1 paper

NM_203487.3

p.T217T

c.651C>A

1 paper

NM_203487.3

p.Y218H

c.652T>C

1 paper

NM_203487.3

p.N154K

c.462C>A

1 paper

NM_203487.3

p.P145L

c.434C>T