Varaico: Literature-Extracted Genetic Variants

PCDHB9

43 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 9

HGNC Alias Symbols

PCDH-BETA9; PCDH3H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_019119.5

p.R124S

c.372G>T

Surrounding Variants

2 papers

NM_019119.5

p.R124S

c.372G>C

1 paper

NM_019119.5

p.Y117S

c.350A>C

1 paper

NM_019119.5

p.E137Q

c.409G>C

1 paper

NM_019119.5

p.E100G

c.299A>G

1 paper

NM_019119.5

p.A157V

c.470C>T

1 paper

NM_019119.5

p.Q158*

c.472C>T

1 paper

NM_019119.5

p.P160T

c.478C>A

1 paper

NM_019119.5

p.N71S

c.212A>G

4 papers

NM_019119.5

p.S185G

c.553A>G

1 paper

NM_019119.5

p.G188V

c.563G>T

1 paper

NM_019119.5

p.V195A

c.584T>C

1 paper

NM_019119.5

p.R229C

c.685C>T