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.F18V

c.52T>G

Surrounding Variants

1 paper

NM_018932.4

p.V19V

c.57T>C

1 paper

NM_018932.4

p.L20L

c.60G>A

1 paper

NM_018932.4

p.R62insFs

c.185dupG

2 papers

NM_018932.4

p.R62fs

c.184_185fs

1 paper

NM_018932.4

p.R62W

c.184C>T

1 paper

NM_018932.4

p.R65Q

c.194G>A

1 paper

NM_018932.4

p.S68T

c.202T>A

1 paper

NM_018932.4

p.V123V

c.369C>G

1 paper

NM_018932.4

p.E135Q

c.403G>C

1 paper

NM_018932.4

p.E137E

c.411A>G

1 paper

NM_018932.4

p.E141Q

c.421G>C

1 paper

NM_018932.4

p.P147S

c.439C>T