Varaico: Literature-Extracted Genetic Variants

PCDHB12

97 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 139–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 576–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 12

HGNC Alias Symbol

PCDH-BETA12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018932.4

p.F152S

c.455T>C

Surrounding Variants

1 paper

NM_018932.4

p.V148L

c.442G>C

1 paper

NM_018932.4

p.P147S

c.439C>T

1 paper

NM_018932.4

p.E141Q

c.421G>C

1 paper

NM_018932.4

p.N165S

c.494A>G

1 paper

NM_018932.4

p.E137E

c.411A>G

1 paper

NM_018932.4

p.E135Q

c.403G>C

1 paper

NM_018932.4

p.P174L

c.521C>T

1 paper

NM_018932.4

p.N175K

c.525C>A

1 paper

NM_018932.4

p.N175K

c.525C>G

1 paper

NM_018932.4

p.H179Q

c.537C>A

1 paper

NM_018932.4

p.H179Q

c.537C>G

1 paper

NM_018932.4

p.V123V

c.369C>G