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.V67L

c.199G>C

Surrounding Variants

1 paper

NM_018937.5

p.V67L

c.199G>T

1 paper

NM_018937.5

p.V67E

c.200T>A

1 paper

NM_018937.5

p.K69N

c.207A>C

1 paper

NM_018937.5

p.K69N

c.207A>T

1 paper

NM_018937.5

p.N71K

c.213C>A

2 papers

NM_018937.5

p.N71K

c.213C>G

1 paper

NM_018937.5

p.K72*

c.214A>T

2 papers

NM_018937.5

p.A61V

c.182C>T

1 paper

NM_018937.5

p.A60D

c.179C>A

1 paper

NM_018937.5

p.L59P

c.176T>C

4 papers

NM_018937.5

p.T81I

c.242C>T

1 paper

NM_018937.5

p.G82D

c.245G>A