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.T534S

c.1600A>T

Surrounding Variants

1 paper

NM_018932.4

p.A545V

c.1634C>T

1 paper

NM_018932.4

p.E522E

c.1566G>A

1 paper

NM_018932.4

p.A545A

c.1635G>C

2 papers

NM_018932.4

p.E522K

c.1564G>A

1 paper

NM_018932.4

p.A508A

c.1524G>A

2 papers

NM_018932.4

p.A508V

c.1523C>T

1 paper

NM_018932.4

p.P564Q

c.1691C>A

1 paper

NM_018932.4

p.Q566E

c.1696C>G

1 paper

NM_018932.4

p.A501V

c.1502C>T

1 paper

NM_018932.4

p.N567N

c.1701C>T

7 papers

NM_018932.4

p.W578R

c.1732T>A

7 papers

NM_018932.4

p.W578R

c.1732T>C