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.N1014S

c.3041A>G

Surrounding Variants

4 papers

NM_203487.3

p.S1017R

c.3049A>C

4 papers

NM_203487.3

p.S1017R

c.3051C>G

4 papers

NM_203487.3

p.S1017R

c.3051C>A

1 paper

NM_203487.3

p.P1023L

c.3068C>T

1 paper

NM_203487.3

p.H1036Q

c.3108C>G

1 paper

NM_203487.3

p.H1036Q

c.3108C>A