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.E248G

c.743A>G

Surrounding Variants

1 paper

NM_018937.5

p.V249F

c.745G>T

1 paper

NM_018937.5

p.P245S

c.733C>T

1 paper

NM_018937.5

p.Q244*

c.730C>T

1 paper

NM_018937.5

p.V257L

c.769G>C

2 papers

NM_018937.5

p.N236N

c.708C>T

1 paper

NM_018937.5

p.I228V

c.682A>G

1 paper

NM_018937.5

p.Q227H

c.681G>C

1 paper

NM_018937.5

p.Q227H

c.681G>T

1 paper

NM_018937.5

p.Q227R

c.680A>G

1 paper

NM_018937.5

p.A214T

c.640G>A

1 paper

NM_018937.5

p.A284delFs

c.850delG

1 paper

NM_018937.5

p.A284fs

c.850_851fs