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.G310G

c.930G>A

Surrounding Variants

1 paper

NM_203487.3

p.L318*

c.953T>A

1 paper

NM_203487.3

p.F291delFs

c.873delA

1 paper

NM_203487.3

p.F291fs

c.871_872fs

1 paper

NM_203487.3

p.N284N

c.852T>C

1 paper

NM_203487.3

p.S283I

c.848G>T

1 paper

NM_203487.3

p.R341P

c.1022G>C

1 paper

NM_203487.3

p.V344F

c.1030G>T

1 paper

NM_203487.3

p.Q273K

c.817C>A

1 paper

NM_203487.3

p.S270_V271ins4

c.808_812ins12

1 paper

NM_203487.3

p.S270_V271ins6

c.808_812ins18

1 paper

NM_203487.3

p.P266P

c.798C>T

1 paper

NM_203487.3

p.N264K

c.792T>G