Varaico: Literature-Extracted Genetic Variants

PCDHB3

91 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 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 3

HGNC Alias Symbol

PCDH-BETA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018937.5

p.R122H

c.365G>A

Surrounding Variants

1 paper

NM_018937.5

p.D128G

c.383A>G

1 paper

NM_018937.5

p.F116S

c.347T>C

2 papers

NM_018937.5

p.Q115Q

c.345A>G

1 paper

NM_018937.5

p.P113T

c.337C>A

1 paper

NM_018937.5

p.I103T

c.308T>C

1 paper

NM_018937.5

p.I142T

c.425T>C

1 paper

NM_018937.5

p.T146S

c.436A>T

1 paper

NM_018937.5

p.T146S

c.437C>G

1 paper

NM_018937.5

p.P148P

c.444A>C

1 paper

NM_018937.5

p.T150A

c.448A>G

1 paper

NM_018937.5

p.V151L

c.451G>C

1 paper

NM_018937.5

p.V151L

c.451G>T