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.N567N

c.1701C>T

Surrounding Variants

1 paper

NM_018931.3

p.A540A

c.1620T>G

1 paper

NM_018931.3

p.T534S

c.1600A>T

5 papers

NM_018931.3

p.G532S

c.1594G>A

1 paper

NM_018931.3

p.R530C

c.1588C>T

1 paper

NM_018931.3

p.D528E

c.1584C>A

1 paper

NM_018931.3

p.D528E

c.1584C>G

1 paper

NM_018931.3

p.F514S

c.1541T>C

2 papers

NM_018931.3

p.R625S

c.1873C>A

1 paper

NM_018931.3

p.R625R

c.1875C>T

1 paper

NM_018931.3

p.T508A

c.1522A>G

1 paper

NM_018931.3

p.I506N

c.1517T>A

1 paper

NM_018931.3

p.S505C

c.1514C>G