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.K960fs

c.2878_2879fs

Surrounding Variants

1 paper

NM_203487.3

p.K960insFs

c.2879_2880ins5

1 paper

NM_203487.3

p.K960insFs

c.2879_2880ins4

1 paper

NM_203487.3

p.I964T

c.2891T>C

1 paper

NM_203487.3

p.H949R

c.2846A>G

1 paper

NM_203487.3

p.S943F

c.2828C>T

1 paper

NM_203487.3

p.L980F

c.2938C>T

1 paper

NM_203487.3

p.D989N

c.2965G>A

1 paper

NM_203487.3

p.F991_S994del0

c.2972_2980del9

1 paper

NM_203487.3

p.P922R

c.2765C>G

1 paper

NM_203487.3

p.Q999H

c.2997A>T

1 paper

NM_203487.3

p.Q999H

c.2997A>C

1 paper

NM_203487.3

p.G916R

c.2746G>C