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.S28F

c.83C>T

Surrounding Variants

1 paper

NM_018937.5

p.G27fs

c.79_80fs

1 paper

NM_018937.5

p.S24Y

c.71C>A

1 paper

NM_018937.5

p.G23W

c.67G>T

1 paper

NM_018937.5

p.K41E

c.121A>G

4 papers

NM_018937.5

p.K41R

c.122A>G

1 paper

NM_018937.5

p.A49V

c.146C>T

1 paper

NM_018937.5

p.A3V

c.8C>T

1 paper

NM_018937.5

p.M1K

c.2T>A

1 paper

NM_018937.5

p.L59P

c.176T>C

1 paper

NM_018937.5

p.A60D

c.179C>A

2 papers

NM_018937.5

p.A61V

c.182C>T

1 paper

NM_018937.5

p.V67L

c.199G>C