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.S518S

c.1554G>A

Surrounding Variants

1 paper

NM_018937.5

p.D509E

c.1527C>G

1 paper

NM_018937.5

p.E528K

c.1582G>A

1 paper

NM_018937.5

p.A508T

c.1522G>A

1 paper

NM_018937.5

p.R530C

c.1588C>T

1 paper

NM_018937.5

p.G532S

c.1594G>A

1 paper

NM_018937.5

p.A533P

c.1597G>C

1 paper

NM_018937.5

p.T534A

c.1600A>G

1 paper

NM_018937.5

p.P493L

c.1478C>T

1 paper

NM_018937.5

p.N555N

c.1665C>T

1 paper

NM_018937.5

p.R478K

c.1433G>A

1 paper

NM_018937.5

p.F560F

c.1680C>T

1 paper

NM_018937.5

p.V561M

c.1681G>A