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.R289C

c.865C>T

Surrounding Variants

1 paper

NM_018932.4

p.E286Q

c.856G>C

1 paper

NM_018932.4

p.G272V

c.815G>T

1 paper

NM_018932.4

p.P306R

c.917C>G

1 paper

NM_018932.4

p.W267*

c.801G>A

1 paper

NM_018932.4

p.W267*

c.800G>A

1 paper

NM_018932.4

p.Y315C

c.944A>G

1 paper

NM_018932.4

p.I318I

c.954C>T

1 paper

NM_018932.4

p.L252R

c.755T>G

1 paper

NM_018932.4

p.L327R

c.980T>G

1 paper

NM_018932.4

p.D339N

c.1015G>A

1 paper

NM_018932.4

p.V340L

c.1018G>C

1 paper

NM_018932.4

p.V340L

c.1018G>T