Varaico: Literature-Extracted Genetic Variants

PCDHB11

79 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 247–339UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 11

HGNC Alias Symbol

PCDH-BETA11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018931.3

p.G794A

c.2381G>C

Surrounding Variants

1 paper

NM_018931.3

p.E785V

c.2354A>T

1 paper

NM_018931.3

p.K768N

c.2304A>C

1 paper

NM_018931.3

p.K768N

c.2304A>T

1 paper

NM_018931.3

p.S740S

c.2220C>T

1 paper

NM_018931.3

p.V739V

c.2217G>A

1 paper

NM_018931.3

p.G730G

c.2190C>A

1 paper

NM_018931.3

p.S721S

c.2163G>T

1 paper

NM_018931.3

p.P672P

c.2016G>T

1 paper

NM_018931.3

p.P651L

c.1952C>T

1 paper

NM_018931.3

p.E632delFs

c.1896delG

1 paper

NM_018931.3

p.E632fs

c.1894_1895fs

1 paper

NM_018931.3

p.R625R

c.1875C>T