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.N463S

c.1388A>G

Surrounding Variants

1 paper

NM_019119.5

p.N463D

c.1387A>G

1 paper

NM_019119.5

p.P492S

c.1474C>T

1 paper

NM_019119.5

p.L426M

c.1276T>A

1 paper

NM_019119.5

p.N507Y

c.1519A>T

1 paper

NM_019119.5

p.S543T

c.1628G>C

2 papers

NM_019119.5

p.T381insFs

c.1142_1143insA

1 paper

NM_019119.5

p.T381fs

c.1141_1142fs

1 paper

NM_019119.5

p.N378N

c.1134T>C

1 paper

NM_019119.5

p.D556D

c.1668C>T

1 paper

NM_019119.5

p.P361S

c.1081C>T

1 paper

NM_019119.5

p.A357S

c.1069G>T

2 papers

NM_019119.5

p.S353F

c.1058C>T