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

3 papers

NM_203487.3

p.R837H

c.2510G>A

Surrounding Variants

1 paper

NM_203487.3

p.R839L

c.2516G>T

1 paper

NM_203487.3

p.V834_L835insFs

c.2502_2503insA

1 paper

NM_203487.3

p.H840ins2

c.2519_2520ins6

1 paper

NM_203487.3

p.A823T

c.2467G>A

1 paper

NM_203487.3

p.A854A

c.2562C>A

1 paper

NM_203487.3

p.I819V

c.2455A>G

1 paper

NM_203487.3

p.M857I

c.2571G>C

1 paper

NM_203487.3

p.P859delFs

c.2576delG

1 paper

NM_203487.3

p.L813V

c.2437C>G

1 paper

NM_203487.3

p.D797G

c.2390A>G

1 paper

NM_203487.3

p.L796_D797ins1

c.2388_2389insAGT

1 paper

NM_203487.3

p.L796_D797insFs

c.2388_2389insAG