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

1–12 of 198 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

3 papers

NM_203487.3

p.D546D

c.1638C>T

3 papers

NM_203487.3

p.R837H

c.2510G>A

2 papers

NM_203487.3

p.V78V

c.234T>A

2 papers

NM_203487.3

p.F633L

c.1897T>C

2 papers

NM_203487.3

p.F633L

c.1899T>G

2 papers

NM_203487.3

p.F633L

c.1899T>A

2 papers

NM_203487.3

p.L787*

c.2360T>A

1 paper

NM_203487.3

p.M1T

c.2T>C

1 paper

NM_203487.3

p.R4S

c.12G>T