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.S880C

c.2639C>G

Surrounding Variants

1 paper

NM_203487.3

p.V885L

c.2653G>C

1 paper

NM_203487.3

p.I887F

c.2659A>T

1 paper

NM_203487.3

p.P859delFs

c.2576delG

1 paper

NM_203487.3

p.G902G

c.2706G>A

1 paper

NM_203487.3

p.M857I

c.2571G>C

1 paper

NM_203487.3

p.A854A

c.2562C>A

1 paper

NM_203487.3

p.P907P

c.2721G>A

1 paper

NM_203487.3

p.G916R

c.2746G>C

1 paper

NM_203487.3

p.G916R

c.2746G>A

1 paper

NM_203487.3

p.H840ins2

c.2519_2520ins6

1 paper

NM_203487.3

p.R839L

c.2516G>T

1 paper

NM_203487.3

p.P922R

c.2765C>G