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

1–12 of 100 variants

7 papers

NM_018932.4

p.W578R

c.1732T>A

7 papers

NM_018932.4

p.W578R

c.1732T>C

6 papers

NM_018932.4

p.K763E

c.2287A>G

5 papers

NM_018932.4

p.H638Q

c.1914C>A

5 papers

NM_018932.4

p.H638Q

c.1914C>G

2 papers

NM_018932.4

p.R62fs

c.184_185fs

2 papers

NM_018932.4

p.R371*

c.1111C>T

2 papers

NM_018932.4

p.G379R

c.1135G>A

2 papers

NM_018932.4

p.G379R

c.1135G>C

2 papers

NM_018932.4

p.A508V

c.1523C>T

2 papers

NM_018932.4

p.E522K

c.1564G>A

1 paper

NM_018932.4

p.F18V

c.52T>G