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

1 paper

NM_019119.5

p.S278F

c.833C>T

Surrounding Variants

1 paper

NM_019119.5

p.F282V

c.844T>G

1 paper

NM_019119.5

p.D283G

c.848A>G

1 paper

NM_019119.5

p.S314F

c.941C>T

3 papers

NM_019119.5

p.V239A

c.716T>C

1 paper

NM_019119.5

p.R229C

c.685C>T

1 paper

NM_019119.5

p.D342N

c.1024G>A

2 papers

NM_019119.5

p.S353F

c.1058C>T

1 paper

NM_019119.5

p.A357S

c.1069G>T

1 paper

NM_019119.5

p.P361S

c.1081C>T

1 paper

NM_019119.5

p.V195A

c.584T>C

1 paper

NM_019119.5

p.G188V

c.563G>T

4 papers

NM_019119.5

p.S185G

c.553A>G